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<title>
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Entry
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- #619787 - EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4
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- OMIM
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<span class="h4">#619787</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/phenotypicSeries/PS226650"> <strong>Phenotypic Series</strong> </a>
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<a href="#description">Description</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE) OR (COL17A1)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11428&Typ=Pat" title="Intermediate generalized junctional epidermolysis bullosa" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Intermediate generalized j… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11432&Typ=Pat" title="Late-onset junctional epidermolysis bullosa" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Late-onset junctional epid… </a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=619787[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79402" title="Intermediate generalized junctional epidermolysis bullosa" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Intermediate generalized j…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79406" title="Late-onset junctional epidermolysis bullosa" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Late-onset junctional epid…</a></div>
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<div><a href="https://omia.org/OMIA002793/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 79402, 79406<br />
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">ICD+</a>
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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619787
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4
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</h3>
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<div>
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<h4>
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<span class="mim-font">
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EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, NON-HERLITZ TYPE<br />
|
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EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN; GABEB<br />
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EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
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</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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<th>
|
|
Gene/Locus
|
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</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
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</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/10/545?start=-3&limit=10&highlight=545">
|
|
10q25.1
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</a>
|
|
</span>
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Epidermolysis bullosa, junctional 4, intermediate
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</span>
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</td>
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619787"> 619787 </a>
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|
</span>
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</td>
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<td>
|
|
<span class="mim-font">
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|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
COL17A1
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</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/113811"> 113811 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
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</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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<div>
|
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|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/619787" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS226650" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/619787" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/619787" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Normal growth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/58236001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">58236001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0578019&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0578019</a>, <a href="https://bioportal.bioontology.org/search?q=C0018270&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018270</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Sparse eyebrows <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422441003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422441003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0578682&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0578682</a>, <a href="https://bioportal.bioontology.org/search?q=C1832446&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832446</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002223" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002223</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0045075" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0045075</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0045075" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0045075</a>]</span><br /> -
|
|
Sparse eyelashes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843300&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843300</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000653" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000653</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000653" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000653</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=09052e490ffb13e8a17a589d4a9208f0" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Eyelashes,Sparse-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=09052e490ffb13e8a17a589d4a9208f0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Oral mucosal erosions <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775167&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775167</a>]</span><br /> -
|
|
Tongue erosions, <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775443&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775443</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Enamel hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26597004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26597004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011351&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011351</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006297" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006297</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006297" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006297</a>]</span><br /> -
|
|
Dental caries <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80967001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80967001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K02</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K02.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K02.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/521.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">521.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/521.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">521.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011334&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011334</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000670" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000670</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000670" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000670</a>]</span><br /> -
|
|
Dental enamel pitting <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860711&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860711</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009722" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009722</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009722" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009722</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Skin blistering (onset at birth) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775159&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775159</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/823996003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">823996003</a>]</span><br /> -
|
|
Atrophic scarring <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409766009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409766009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/239172000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">239172000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162154&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162154</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001075" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001075</a>]</span><br /> -
|
|
Hyperpigmentation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/4830009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">4830009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/49765009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">49765009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162834&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162834</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000953" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000953</a>]</span><br /> -
|
|
Hypopigmentation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18655006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18655006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23006000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23006000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/89031001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">89031001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1876214&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1876214</a>, <a href="https://bioportal.bioontology.org/search?q=C0162835&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162835</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001010</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001010</a>]</span><br /> -
|
|
Epidermolysis bullosa nevi <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775162&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775162</a>]</span><br /> -
|
|
Milia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37719003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37719003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254679001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254679001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0345996&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0345996</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001056" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001056</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001056" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001056</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin Histology </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Normal laminin-5 immunofluorescence <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775172&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775172</a>]</span><br /> -
|
|
Absent-reduced COL17A1 immunofluorescence <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775444&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775444</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Electron Microscopy </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cleavage plane within the basement membrane zone lamina lucida <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775819&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775819</a>]</span><br /> -
|
|
Hypoplastic hemidesmosomes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856945&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856945</a>]</span><br /> -
|
|
Decreased number hemidesmosomes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775175&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775175</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nails </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Nail dystrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87065009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87065009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L60.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L60.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221260</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008404" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008404</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008404" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008404</a>]</span><br /> -
|
|
Nail hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11375002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11375002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0263523&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263523</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001792" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001792</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001792" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001792</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hair </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Scalp alopecia, focal-total <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775445&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775445</a>]</span><br /> -
|
|
Sparse eyebrows <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422441003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422441003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0578682&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0578682</a>, <a href="https://bioportal.bioontology.org/search?q=C1832446&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832446</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002223" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002223</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0045075" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0045075</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0045075" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0045075</a>]</span><br /> -
|
|
Sparse eyelashes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843300&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843300</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000653" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000653</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000653" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000653</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=09052e490ffb13e8a17a589d4a9208f0" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Eyelashes,Sparse-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=09052e490ffb13e8a17a589d4a9208f0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Absent body hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3554411&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3554411</a>]</span><br /> -
|
|
Absent-sparse pubic hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858573&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858573</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002225" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002225</a>]</span><br /> -
|
|
Absent-sparse axillary hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858574&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858574</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002215" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002215</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
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|
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|
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|
|
|
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|
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|
|
|
|
|
|
|
|
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|
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|
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|
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|
|
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|
|
|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- GABEB is an acronym (generalized atrophic benign epidermolysis bullosa)<br /> -
|
|
Moderate improvement with age<br /> -
|
|
Somatic reverse mosaicism has been reported<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in collagen, type XVII, alpha-1 (COL17A1, <a href="/entry/113811#0001">113811.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Epidermolysis bullosa, junctional
|
|
- <a href="/phenotypicSeries/PS226650">PS226650</a>
|
|
- 10 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1487?start=-3&limit=10&highlight=1487"> 1q25.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619786"> Epidermolysis bullosa, junctional 3B, severe </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619786"> 619786 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/150292"> LAMC2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/150292"> 150292 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1487?start=-3&limit=10&highlight=1487"> 1q25.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619785"> Epidermolysis bullosa, junctional 3A, intermediate </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/619785"> 619785 </a>
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<span class="mim-font">
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<a href="/entry/150292"> LAMC2 </a>
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<span class="mim-font">
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<a href="/entry/150292"> 150292 </a>
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<a href="/geneMap/1/1666?start=-3&limit=10&highlight=1666"> 1q32.2 </a>
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<span class="mim-font">
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<a href="/entry/226700"> Epidermolysis bullosa, junctional 1B, severe </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/226700"> 226700 </a>
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<span class="mim-font">
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<a href="/entry/150310"> LAMB3 </a>
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<span class="mim-font">
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<a href="/entry/150310"> 150310 </a>
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<a href="/geneMap/1/1666?start=-3&limit=10&highlight=1666"> 1q32.2 </a>
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<span class="mim-font">
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<a href="/entry/226650"> Epidermolysis bullosa, junctional 1A, intermediate </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/226650"> 226650 </a>
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<span class="mim-font">
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<a href="/entry/150310"> LAMB3 </a>
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<span class="mim-font">
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<a href="/entry/150310"> 150310 </a>
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<span class="mim-font">
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<a href="/geneMap/10/545?start=-3&limit=10&highlight=545"> 10q25.1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/619787"> Epidermolysis bullosa, junctional 4, intermediate </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/619787"> 619787 </a>
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<td>
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<span class="mim-font">
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<a href="/entry/113811"> COL17A1 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/113811"> 113811 </a>
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</span>
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</td>
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<span class="mim-font">
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<a href="/geneMap/17/729?start=-3&limit=10&highlight=729"> 17q21.33 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/614748"> Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/614748"> 614748 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/605025"> ITGA3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/605025"> 605025 </a>
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</span>
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</td>
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<span class="mim-font">
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<a href="/geneMap/17/950?start=-3&limit=10&highlight=950"> 17q25.1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/226730"> Epidermolysis bullosa, junctional 5B, with pyloric atresia </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/226730"> 226730 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/147557"> ITGB4 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/147557"> 147557 </a>
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</span>
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</td>
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<span class="mim-font">
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<a href="/geneMap/17/950?start=-3&limit=10&highlight=950"> 17q25.1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/619816"> Epidermolysis bullosa, junctional 5A, intermediate </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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<span class="mim-font">
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<a href="/entry/619816"> 619816 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/147557"> ITGB4 </a>
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<span class="mim-font">
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<a href="/entry/147557"> 147557 </a>
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<span class="mim-font">
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<a href="/geneMap/18/96?start=-3&limit=10&highlight=96"> 18q11.2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/619783"> Epidermolysis bullosa, junctional 2A, intermediate </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/619783"> 619783 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/600805"> LAMA3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/600805"> 600805 </a>
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</span>
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</td>
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<span class="mim-font">
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<a href="/geneMap/18/96?start=-3&limit=10&highlight=96"> 18q11.2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/619784"> Epidermolysis bullosa, junctional 2B, severe </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/619784"> 619784 </a>
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<span class="mim-font">
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<a href="/entry/600805"> LAMA3 </a>
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<span class="mim-font">
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<a href="/entry/600805"> 600805 </a>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that intermediate junctional epidermolysis bullosa-4 (JEB4) is caused by homozygous or compound heterozygous mutation in the COL17A1 gene (<a href="/entry/113811">113811</a>) on chromosome 10q25.</p>
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<a id="description" class="mim-anchor"></a>
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Description</strong>
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<p>Intermediate junctional epidermolysis bullosa-4 (JEB4) is an autosomal recessive, nonlethal skin disorder characterized by blistering and erosions at birth or shortly afterward. The plane of cleavage of blistering is through the lamina lucida of the cutaneous basement zone. Blisters may heal with atrophic scarring and variable hypo- or hyperpigmentation. Oral mucosa may be involved. Nails may be lost or dystrophic, and dental enamel defects are present (summary by <a href="#8" class="mim-tip-reference" title="Has, C., Bauer, J. W., Bodemer, C., Bolling, M. C., Bruckner-Tuderman, L., Diem, A., Fine, J. D., Heagerty, A., Hovnanian, A., Marinkovich, M. P., Martinez, A. E., McGrath, J. A., and 10 others. <strong>Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility.</strong> Brit. J. Derm. 183: 614-627, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32017015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32017015</a>] [<a href="https://doi.org/10.1111/bjd.18921" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32017015">Has et al., 2020</a>). A previous designation, GABEB (generalized atrophic benign epidermolysis bullosa), was used to classify patients whose phenotype included alopecia; see NOMENCLATURE. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32017015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a discussion of genetic heterogeneity of the subtypes of JEB, see JEB1A (<a href="/entry/226650">226650</a>).</p>
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<a id="nomenclature" class="mim-anchor"></a>
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<strong>Nomenclature</strong>
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<p>Generalized atrophic benign epidermolysis bullosa (GABEB) was the designation given to a form of JEB with good prognosis by <a href="#9" class="mim-tip-reference" title="Hintner, H., Wolff, K. <strong>Generalized atrophic benign epidermolysis bullosa.</strong> Arch. Derm. 118: 375-384, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7092249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7092249</a>]" pmid="7092249">Hintner and Wolff (1982)</a>. Clinical features include continuous blistering since birth, healing with cigarette paper-like atrophic skin with pigment shifts at sites of recurrent blistering with no scarring or milia. Follicular atrophy begins in childhood and may result in scalp baldness, partial absence of eyelashes and eyebrows, and universal alopecia; this alopecia distinguishes GABEB from other forms of non-Herlitz JEB. Nails, dentition, and mucous membranes are affected. Growth is normal and moderate improvement is seen with age (summary by <a href="#11" class="mim-tip-reference" title="Jonkman, M. F., De Jong, M. C. J. M., Heeres, K., Steijlen, P. M., Owaribe, K., Kuster, W., Meurer, M., Gedde-Dahl, T., Jr., Sonnenberg, A., Bruckner-Tuderman, L. <strong>Generalized atrophic benign epidermolysis bullosa: either 180-kd bullous pemphigoid antigen or laminin-5 deficiency.</strong> Arch. Derm. 132: 145-150, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8629821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8629821</a>] [<a href="https://doi.org/10.1001/archderm.132.2.145" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8629821">Jonkman et al., 1996</a>). COL17A1 gene mutations were found to underlie the majority of cases classified as GABEB (<a href="#5" class="mim-tip-reference" title="Floeth, M., Bruckner-Tuderman, L. <strong>Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.</strong> Am. J. Hum. Genet. 65: 1530-1537, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10577906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10577906</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10577906[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/302672" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10577906">Floeth and Bruckner-Tuderman, 1999</a>). However, mutations in the LAMB3 gene (<a href="/entry/150310">150310</a>) have also been identified in patients with this phenotype (<a href="#18" class="mim-tip-reference" title="Varki, R., Sadowski, S., Pfendner, E., Uitto, J. <strong>Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.</strong> J. Med. Genet. 43: 641-652, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16473856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16473856</a>] [<a href="https://doi.org/10.1136/jmg.2005.039685" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16473856">Varki et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7092249+16473856+10577906+8629821" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a report of a consensus meeting, <a href="#4" class="mim-tip-reference" title="Fine, J.-D., Eady, R. A. J., Bauer, E. A., Briggaman, R. A., Bruckner-Tuderman, L., Christiano, A., Heagerty, A., Hintner, H., Jonkman, M. F., McGrath, J., McGuire, J., Moshell, A., Shimizu, H., Tadini, G., Uitto, J. <strong>Revised classification system for inherited epidermolysis bullosa: report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa.</strong> J. Am. Acad. Derm. 42: 1051-1066, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10827412/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10827412</a>]" pmid="10827412">Fine et al. (2000)</a> stated that the term 'GABEB' is an inaccurate term to describe this disorder and suggested the term 'non-Herlitz type of junctional epidermolysis bullosa.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10827412" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#15" class="mim-tip-reference" title="McGrath, J. A., Gatalica, B., Christiano, A. M., Li, K., Owaribe, K., McMillan, J. R., Eady, R. A. J., Uitto, J. <strong>Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa.</strong> Nature Genet. 11: 83-86, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7550320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7550320</a>] [<a href="https://doi.org/10.1038/ng0995-83" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7550320">McGrath et al. (1995)</a> described a 14-year-old boy with typical clinical features of non-Herlitz JEB and mutation in the COL17A1 gene. The phenotype was described as 'generalized atrophic benign epidermolysis bullosa' (GABEB). Extensive dystrophy was present in all nails, and all teeth showed abnormal enamel, with pitting and widespread caries. Focal scarring alopecia was present on the posterior vertex of the scalp, and there was partial alopecia of eyelashes. Additionally there was patchy macular hyperpigmentation on the trunk. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7550320" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Jonkman, M. F., De Jong, M. C. J. M., Heeres, K., Steijlen, P. M., Owaribe, K., Kuster, W., Meurer, M., Gedde-Dahl, T., Jr., Sonnenberg, A., Bruckner-Tuderman, L. <strong>Generalized atrophic benign epidermolysis bullosa: either 180-kd bullous pemphigoid antigen or laminin-5 deficiency.</strong> Arch. Derm. 132: 145-150, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8629821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8629821</a>] [<a href="https://doi.org/10.1001/archderm.132.2.145" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8629821">Jonkman et al. (1996)</a> stated that GABEB is a form of nonlethal junctional epidermolysis bullosa, clinically characterized by generalized blistering after birth, atrophic healing, and incomplete universal atrophic alopecia with onset in childhood. The authors studied 18 patients with generalized intermediate JEB, 9 of whom presented with clinical characteristics of GABEB. One of these patients was studied further by <a href="#13" class="mim-tip-reference" title="Jonkman, M. F., Scheffer, H., Stulp, R., Pas, H. H., Nijenhuis, M., Heeres, K., Owaribe, K., Pulkkinen, L., Uitto, J. <strong>Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion.</strong> Cell 88: 543-551, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9038345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9038345</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)81894-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9038345">Jonkman et al. (1997)</a> who found that the presence of patches of clinically unaffected skin were explained by mosaicism caused by reversion of 1 of the 2 mutations in the COL17A1 gene carried by the patient. The patient otherwise displayed generalized blistering after minor trauma resulting in cutaneous atrophy, mild mucous membrane involvement, universal alopecia, pigmentary changes, dental anomalies, and nail dystrophy. There was no evidence of scarring or milia formation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9038345+8629821" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Gatalica, B., Pulkkinen, L., Li, K., Kuokkanen, K., Ryynanen, M., McGrath, J. A., Uitto, J. <strong>Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa.</strong> Am. J. Hum. Genet. 60: 352-365, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9012408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9012408</a>]" pmid="9012408">Gatalica et al. (1997)</a> studied 2 Finnish families with non-Herlitz JEB and mutation in the COL17A1 gene. Both probands had blisters at birth as well as nail dystrophy, dental anomalies, and alopecia, which are characteristic features of GABEB. The parents of affected individuals in both families were unaffected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9012408" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Schumann, H., Hammami-Hauasli, N., Pulkkinen, L., Mauviel, A., Kuster, W., Luthi, U., Owaribe, K., Uitto, J., Bruckner-Tuderman, L. <strong>Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa.</strong> Am. J. Hum. Genet. 60: 1344-1353, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9199555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9199555</a>] [<a href="https://doi.org/10.1086/515463" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9199555">Schumann et al. (1997)</a> reported 3 patients with non-Herlitz JEB and mutation in the COL17A1 gene. Patient 1 was an 18-year-old female who had multiple blisters of the arms and legs at birth. Mechanically induced and spontaneous blisters continued to appear, mostly on the extremities, head, and face. Blisters healed without scarring but with some atrophy and hyperpigmentation. Periungual blistering and paronychia led to dystrophy of all nails. Beginning at age 6 years, patchy alopecia of the scalp developed, leading to loss of all parietal hair. Erosions regularly occurred on oral mucosa and tongue. Electron microscopy showed junctional blistering and hypoplastic hemidesmosomes. Patient 2 was a 9-year-old girl who had had blistering of the skin and mucous membranes since birth. Mechanically induced blisters occurred usually on the extremities and face and healed without scarring but with skin atrophy. Blistering of the scalp led to diffuse alopecia. Electron microscopy showed junctional blistering and severely hypoplastic hemidesmosomes in the basal keratinocytes at the blister roof. Patients 1 and 2 were described as having the GABEB phenotype. Patient 3, described as having the localisata phenotype, was a 53-year-old male who had had trauma-induced blistering since school age but developed an overall milder phenotype, with blistering predominantly at distal extremities and occasionally of the oral mucosa. All nails were lost and mild skin atrophy developed on the extremities. Electron microscopy showed slight structural alterations of the hemidesmosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9199555" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Chavanas, S., Gache, Y., Tadini, G., Pulkkinen, L., Uitto, J., Ortonne, J. P., Meneguzzi, G. <strong>A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa.</strong> J. Invest. Derm. 109: 74-78, 1997. Note: Erratum: J. Invest. Derm. 109: 613 only, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9204958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9204958</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12276614" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9204958">Chavanas et al. (1997)</a> described a 28-year-old Italian woman with JEB, classified as GABEB type, and mutation in the COL17A1 gene. She presented continuous mild blistering of the skin that healed with atrophy, universal alopecia, and dystrophic nails and teeth. Immunohistochemistry showed the blister cleavage plane within the lamina lucida of the basement membrane zone. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9204958" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Darling, T. N., Yee, C., Koh, B., McGrath, J. A., Bauer, J. W., Uitto, J., Hintner, H., Yancey, K. B. <strong>Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa.</strong> J. Invest. Derm. 110: 165-169, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9457913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9457913</a>] [<a href="https://doi.org/10.1046/j.1523-1747.1998.00103.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9457913">Darling et al. (1998)</a> studied a 19-year-old Austrian man, originally described by <a href="#9" class="mim-tip-reference" title="Hintner, H., Wolff, K. <strong>Generalized atrophic benign epidermolysis bullosa.</strong> Arch. Derm. 118: 375-384, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7092249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7092249</a>]" pmid="7092249">Hintner and Wolff (1982)</a> as case 8, with non-Herlitz JEB and mutation in the COL17A1 gene. He had diffuse scalp alopecia and sparse body, pubic, and axillary hair, as well as pitted, discolored teeth. Blisters occurred predominantly on hands, feet, and face. Large melanocytic nevi developed at sites of blistering. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7092249+9457913" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Floeth, M., Fiedorowicz, J., Schacke, H., Hammami-Hauasli, N., Owaribe, K., Trueb, R. M., Bruckner-Tuderman, L. <strong>Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa.</strong> J. Invest. Derm. 111: 528-533, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9740252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9740252</a>] [<a href="https://doi.org/10.1046/j.1523-1747.1998.00325.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9740252">Floeth et al. (1998)</a> reported 4 unrelated probands with JEB4. Patients 1, 2, and 3, ages 75, 6, and 12 years, respectively, had a similar phenotype, with fragility of skin and oral mucosa since birth and generalized blistering most often affecting the face and extremities. Blisters healed without scarring but with atrophy and hyperpigmentation. Dystrophy or loss of nails as well as sparse hair or alopecia on head or body occurred in all 3. Dental caries were present in 2. The phenotype in these patients was classified as GABEB. Patient 4 was a 34-year-old man with nonscarring blistering since birth, initially generalized but later localized to the distal extremities, with hyperpigmentation and dystrophy of toe nails. He had no dental anomalies but did have a tendency to caries. Scalp and body hair were normal. Based on the clinical presentation, he was initially thought to have epidermolysis bullosa simplex, until antigen mapping revealed junctional splitting and abnormal expression of collagen XVII in the skin. This patient was classified as having the localisata variant of JEB. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9740252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Tasanen, K., Floeth, M., Schumann, H., Bruckner-Tuderman, L. <strong>Hemizygosity for a glycine substitution in collagen XVII: unfolding and degradation of the ectodomain.</strong> J. Invest. Derm. 115: 207-212, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10951237/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10951237</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2000.00049.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10951237">Tasanen et al. (2000)</a> described a 13-year-old German boy with JEB4. He had developed blisters on both hands 3 days after birth, and mechanically induced bullae continued to appear, extremities being most often affected. The blistering activity diminished over the following years but increased again at the age of 12. At that time the blisters became disseminated and healed with hyperpigmentation and hypopigmentation. The overall clinical picture was relatively mild, however. The patient showed no skin atrophy or scarring, but milia were present on the forehead and occasionally in other areas. The teeth were abnormal, with pits and grooves on the front surfaces. The fingernails were normal, but toenails were dystrophic as a consequence of repeated sports trauma. The scalp hair was normal; however, no genital or axillary hair had developed at the age of 13. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10951237" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of JEB4 in the family reported by <a href="#15" class="mim-tip-reference" title="McGrath, J. A., Gatalica, B., Christiano, A. M., Li, K., Owaribe, K., McMillan, J. R., Eady, R. A. J., Uitto, J. <strong>Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa.</strong> Nature Genet. 11: 83-86, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7550320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7550320</a>] [<a href="https://doi.org/10.1038/ng0995-83" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7550320">McGrath et al. (1995)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7550320" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 14-year-old male with intermediate JEB, <a href="#15" class="mim-tip-reference" title="McGrath, J. A., Gatalica, B., Christiano, A. M., Li, K., Owaribe, K., McMillan, J. R., Eady, R. A. J., Uitto, J. <strong>Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa.</strong> Nature Genet. 11: 83-86, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7550320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7550320</a>] [<a href="https://doi.org/10.1038/ng0995-83" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7550320">McGrath et al. (1995)</a> identified compound heterozygosity for nonsense mutations in the COL17A1 gene (<a href="/entry/113811#0001">113811.0001</a> and <a href="/entry/113811#0002">113811.0002</a>). The unrelated parents were clinically normal and each was heterozygous for 1 of the mutations, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7550320" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 53-year-old man (patient 3) with mild manifestations of non-Herlitz JEB, <a href="#16" class="mim-tip-reference" title="Schumann, H., Hammami-Hauasli, N., Pulkkinen, L., Mauviel, A., Kuster, W., Luthi, U., Owaribe, K., Uitto, J., Bruckner-Tuderman, L. <strong>Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa.</strong> Am. J. Hum. Genet. 60: 1344-1353, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9199555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9199555</a>] [<a href="https://doi.org/10.1086/515463" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9199555">Schumann et al. (1997)</a> detected homozygosity for an arg1303-to-gln mutation of the COL17A1 gene (R1303Q; <a href="/entry/113811#0006">113811.0006</a>). He was the only child of third-cousin parents. His heterozygous daughter was unaffected. Patients 1 and 2, with more typical clinical features, were each homozygous for a different nonsense mutation (e.g., R1226X, <a href="/entry/113811#0001">113811.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9199555" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Gatalica, B., Pulkkinen, L., Li, K., Kuokkanen, K., Ryynanen, M., McGrath, J. A., Uitto, J. <strong>Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa.</strong> Am. J. Hum. Genet. 60: 352-365, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9012408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9012408</a>]" pmid="9012408">Gatalica et al. (1997)</a> identified a 5-bp deletion in the COL17A1 gene (<a href="/entry/113811#0003">113811.0003</a>) in 2 Finnish families with JEB4. The proband of family A was homozygous for the deletion, and the proband of family B carried the deletion in compound heterozygosity with a nonsense mutation (Q1023X; <a href="/entry/113811#0004">113811.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9012408" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 28-year-old Italian woman with JEB4, <a href="#1" class="mim-tip-reference" title="Chavanas, S., Gache, Y., Tadini, G., Pulkkinen, L., Uitto, J., Ortonne, J. P., Meneguzzi, G. <strong>A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa.</strong> J. Invest. Derm. 109: 74-78, 1997. Note: Erratum: J. Invest. Derm. 109: 613 only, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9204958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9204958</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12276614" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9204958">Chavanas et al. (1997)</a> demonstrated homozygosity for a splice site mutation in intron 31 of the COL17A1 gene (<a href="/entry/113811#0007">113811.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9204958" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 19-year-old Austrian man with JEB4, <a href="#2" class="mim-tip-reference" title="Darling, T. N., Yee, C., Bauer, J. W., Hintner, H., Yancey, K. B. <strong>Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation.</strong> J. Clin. Invest. 103: 1371-1377, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10330419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10330419</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10330419[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI4338" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10330419">Darling et al. (1999)</a> identified a splicing mutation in intron 31 of the COL17A1 gene (<a href="/entry/113811#0008">113811.0008</a>), inherited from the unaffected mother. A mutation on the paternal allele could not be identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10330419" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 patients with JEB, <a href="#6" class="mim-tip-reference" title="Floeth, M., Fiedorowicz, J., Schacke, H., Hammami-Hauasli, N., Owaribe, K., Trueb, R. M., Bruckner-Tuderman, L. <strong>Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa.</strong> J. Invest. Derm. 111: 528-533, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9740252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9740252</a>] [<a href="https://doi.org/10.1046/j.1523-1747.1998.00325.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9740252">Floeth et al. (1998)</a> identified homozygous or compound heterozygous mutations in the COL17A1 gene. Patients 1 and 2 were homozygous for frameshift mutations resulting in premature termination of the protein (520delAG, <a href="/entry/113811#0010">113811.0010</a> and 2965delG, <a href="/entry/113811#0011">113811.0011</a>, respectively). Patient 3 was compound heterozygous for a missense and a frameshift mutation. Patient 4, classified as having the localisata variant, was heterozygous for the R1226X mutation (<a href="/entry/113811#0001">113811.0001</a>). No mutation was identified on the other COL17A1 allele. The patient had inherited the mutation from his father, who was unaffected; the mutation was present in heterozygosity in his unaffected sister as well. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9740252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 13-year-old German boy with JEB4, <a href="#17" class="mim-tip-reference" title="Tasanen, K., Floeth, M., Schumann, H., Bruckner-Tuderman, L. <strong>Hemizygosity for a glycine substitution in collagen XVII: unfolding and degradation of the ectodomain.</strong> J. Invest. Derm. 115: 207-212, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10951237/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10951237</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2000.00049.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10951237">Tasanen et al. (2000)</a> identified compound heterozygosity for mutations in the COL17A1 gene, a missense mutation (G633D; <a href="/entry/113811#0013">113811.0013</a>) and a nonsense mutation (R145X; <a href="/entry/113811#0014">113811.0014</a>). The G633D mutation was shown to reduce the thermal stability of the Col15 domain of the COL17A1 protein, resulting in abnormal folding and susceptibility to degradation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10951237" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Kiritsi, D., Kern, J. S., Schumann, H., Kohlhase, J., Has, C., Bruckner-Tuderman, L. <strong>Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.</strong> J. Med. Genet. 48: 450-457, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21357940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21357940</a>] [<a href="https://doi.org/10.1136/jmg.2010.086751" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21357940">Kiritsi et al. (2011)</a> identified 34 distinct COL17A1 mutations, including 12 novel mutations, among 43 patients with non-Herlitz JEB of varying clinical severity. Most (69%) were nonsense or predicted to result in premature termination, whereas 19% were missense and 12% were splice site mutations. Although most mutations were private, the R1226X mutation (<a href="/entry/113811#0001">113811.0001</a>) was found in 10% of alleles. A genotype/phenotype correlation was apparent, with the more severe generalized phenotypes associated with truncating mutations. Detailed investigation of 3 patients with splice site mutations indicated that 12 to 14% residual collagen XVII levels in skin biopsies was sufficient to compensate, resulting in later onset of symptoms, milder cutaneous involvement, and longer life span. The data suggested that low levels of collagen XVII restoration can improve skin stability and alleviate symptoms in patients with COL17A1 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21357940" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Revertant Mosaicism</em></strong></p><p>
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In a 28-year-old Dutch woman with a mosaic non-Herlitz JEB phenotype (<a href="#10" class="mim-tip-reference" title="Jonkman, M. F., de Jong, M. C. J. M., Heeres, K., Pas, H. H., van der Meer, J. B., Owaribe, K., Martinez de Velasco, A. M., Niessen, C. M., Sonnenberg, A. <strong>180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa.</strong> J. Clin. Invest. 95: 1345-1352, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7883981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7883981</a>] [<a href="https://doi.org/10.1172/JCI117785" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7883981">Jonkman et al., 1995</a>; <a href="#11" class="mim-tip-reference" title="Jonkman, M. F., De Jong, M. C. J. M., Heeres, K., Steijlen, P. M., Owaribe, K., Kuster, W., Meurer, M., Gedde-Dahl, T., Jr., Sonnenberg, A., Bruckner-Tuderman, L. <strong>Generalized atrophic benign epidermolysis bullosa: either 180-kd bullous pemphigoid antigen or laminin-5 deficiency.</strong> Arch. Derm. 132: 145-150, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8629821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8629821</a>] [<a href="https://doi.org/10.1001/archderm.132.2.145" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8629821">Jonkman et al., 1996</a>), <a href="#13" class="mim-tip-reference" title="Jonkman, M. F., Scheffer, H., Stulp, R., Pas, H. H., Nijenhuis, M., Heeres, K., Owaribe, K., Pulkkinen, L., Uitto, J. <strong>Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion.</strong> Cell 88: 543-551, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9038345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9038345</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)81894-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9038345">Jonkman et al. (1997)</a> identified compound heterozygosity for mutations in COL17A1 and demonstrated that the mosaic phenotype was caused by reversion of the maternally inherited 1-bp deletion (<a href="/entry/113811#0005">113811.0005</a>) due to the nonreciprocal transfer of a part of 1 parental allele for the other by a mitotic gene conversion mechanism. The paternal mutation, R1226X (<a href="/entry/113811#0001">113811.0001</a>), remained present in all cell samples. <a href="#13" class="mim-tip-reference" title="Jonkman, M. F., Scheffer, H., Stulp, R., Pas, H. H., Nijenhuis, M., Heeres, K., Owaribe, K., Pulkkinen, L., Uitto, J. <strong>Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion.</strong> Cell 88: 543-551, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9038345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9038345</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)81894-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9038345">Jonkman et al. (1997)</a> stated that this natural gene therapy had implications for the design of gene therapy, since reversion of the affected genotype to carrier genotype of approximately 50% of the basal keratinocytes appeared to be sufficient to normalize the function of the skin, as noted in clinically unaffected skin patches of the patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9038345+7883981+8629821" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Jonkman et al. (<a href="#10" class="mim-tip-reference" title="Jonkman, M. F., de Jong, M. C. J. M., Heeres, K., Pas, H. H., van der Meer, J. B., Owaribe, K., Martinez de Velasco, A. M., Niessen, C. M., Sonnenberg, A. <strong>180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa.</strong> J. Clin. Invest. 95: 1345-1352, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7883981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7883981</a>] [<a href="https://doi.org/10.1172/JCI117785" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7883981">1995</a>, <a href="#11" class="mim-tip-reference" title="Jonkman, M. F., De Jong, M. C. J. M., Heeres, K., Steijlen, P. M., Owaribe, K., Kuster, W., Meurer, M., Gedde-Dahl, T., Jr., Sonnenberg, A., Bruckner-Tuderman, L. <strong>Generalized atrophic benign epidermolysis bullosa: either 180-kd bullous pemphigoid antigen or laminin-5 deficiency.</strong> Arch. Derm. 132: 145-150, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8629821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8629821</a>] [<a href="https://doi.org/10.1001/archderm.132.2.145" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8629821">1996</a>) observed a mosaic pattern of immunoreactive type XVII collagen in clusters of basal cells in patches of clinically unaffected skin in a Dutch GABEB patient, in whom the remainder of the skin demonstrated characteristic blistering from mechanical trauma. <a href="#13" class="mim-tip-reference" title="Jonkman, M. F., Scheffer, H., Stulp, R., Pas, H. H., Nijenhuis, M., Heeres, K., Owaribe, K., Pulkkinen, L., Uitto, J. <strong>Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion.</strong> Cell 88: 543-551, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9038345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9038345</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)81894-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9038345">Jonkman et al. (1997)</a> demonstrated that the mosaic phenotype in this compound heterozygote patient was caused by reversion of one of the mutations in the COL17A1 gene. They also demonstrated that the reverse mutation was the result of the nonreciprocal transfer of a part of 1 parental allele for the other by a mitotic gene conversion mechanism. The maternal allele, carrying a 1706delA mutation (<a href="/entry/113811#0005">113811.0005</a>), showed reversion of the mutation and loss of heterozygosity (LOH) along a tract of at least 381 bp in revertant keratinocytes derived from clinically unaffected skin patches. The paternal mutation, R1226X (<a href="/entry/113811#0001">113811.0001</a>), remained present in all cell samples. <a href="#13" class="mim-tip-reference" title="Jonkman, M. F., Scheffer, H., Stulp, R., Pas, H. H., Nijenhuis, M., Heeres, K., Owaribe, K., Pulkkinen, L., Uitto, J. <strong>Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion.</strong> Cell 88: 543-551, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9038345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9038345</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)81894-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9038345">Jonkman et al. (1997)</a> stated that the natural gene therapy reported here has implications for the design of gene therapy, since reversion of the affected genotype to carrier genotype of approximately 50% of the basal keratinocytes appeared to be sufficient to normalize the function of the skin, as noted in clinically unaffected skin patches of the patient with this autosomal recessive disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9038345+7883981+8629821" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Darling, T. N., Yee, C., Bauer, J. W., Hintner, H., Yancey, K. B. <strong>Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation.</strong> J. Clin. Invest. 103: 1371-1377, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10330419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10330419</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10330419[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI4338" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10330419">Darling et al. (1999)</a> described a 56-year-old Austrian woman with non-Herlitz JEB with a GABEB phenotype and mutation in the COL17A1 gene. She was a member of a large kindred with 5 affected and 5 unaffected sibs that had originally been identified by <a href="#9" class="mim-tip-reference" title="Hintner, H., Wolff, K. <strong>Generalized atrophic benign epidermolysis bullosa.</strong> Arch. Derm. 118: 375-384, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7092249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7092249</a>]" pmid="7092249">Hintner and Wolff (1982)</a>. While most skin biopsies from her contained no immunoreactive type XVII collagen, the serendipitous observation that her epidermal basement membrane showed focal, interrupted expression of type XVII collagen (not present in other affected family members) suggested that she was mosaic for either a normal COL17A1 allele or a second genetic alteration that allowed production of immunoreactive protein. She did not have the islands of normal-appearing skin present in other patients with revertant mosaicism (e.g., <a href="#13" class="mim-tip-reference" title="Jonkman, M. F., Scheffer, H., Stulp, R., Pas, H. H., Nijenhuis, M., Heeres, K., Owaribe, K., Pulkkinen, L., Uitto, J. <strong>Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion.</strong> Cell 88: 543-551, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9038345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9038345</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)81894-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9038345">Jonkman et al., 1997</a>). She was found to have a frame-restoring mutation on 1 allele of COL17A1 in addition to homozygosity for a premature termination codon mutation (<a href="/entry/113811#0009">113811.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7092249+9038345+10330419" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Jonkman, M. F., Pasmooij, A. M. G. <strong>Revertant mosaicism: patchwork in the skin. (Letter)</strong> New Eng. J. Med. 360: 1680-1682, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19369679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19369679</a>] [<a href="https://doi.org/10.1056/NEJMc0809896" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19369679">Jonkman and Pasmooij (2009)</a> analyzed data from 20 patients with non-Herlitz junctional EB, 14 of whom had type XVII collagen deficiency due to mutant COL17A1 and 6 of whom had laminin-beta-3 deficiency due to mutant LAMB3. The authors found an unexpectedly high number of patients with revertant patches including 5 (36%) of 14 patients with collagen deficiency and 2 (33%) of 6 with laminin deficiency, as reflected by the reexpression of the deficient protein on immunofluorescence-antigen mapping of skin-biopsy specimens. In addition, at least 6 of the 7 patients with revertant mosaicism had multiple patches, each caused by a different molecular event. <a href="#12" class="mim-tip-reference" title="Jonkman, M. F., Pasmooij, A. M. G. <strong>Revertant mosaicism: patchwork in the skin. (Letter)</strong> New Eng. J. Med. 360: 1680-1682, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19369679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19369679</a>] [<a href="https://doi.org/10.1056/NEJMc0809896" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19369679">Jonkman and Pasmooij (2009)</a> suggested that revertant somatic mosaicism should be considered when a patient has an atypical phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19369679" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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|
|
<li>
|
|
<a id="1" class="mim-anchor"></a>
|
|
<a id="Chavanas1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chavanas, S., Gache, Y., Tadini, G., Pulkkinen, L., Uitto, J., Ortonne, J. P., Meneguzzi, G.
|
|
<strong>A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa.</strong>
|
|
J. Invest. Derm. 109: 74-78, 1997. Note: Erratum: J. Invest. Derm. 109: 613 only, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9204958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9204958</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9204958" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/1523-1747.ep12276614" target="_blank">Full Text</a>]
|
|
|
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|
|
</p>
|
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|
|
</li>
|
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|
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<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Darling1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Darling, T. N., Yee, C., Bauer, J. W., Hintner, H., Yancey, K. B.
|
|
<strong>Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation.</strong>
|
|
J. Clin. Invest. 103: 1371-1377, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10330419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10330419</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10330419[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10330419" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI4338" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Darling1998" class="mim-anchor"></a>
|
|
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|
|
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|
|
Darling, T. N., Yee, C., Koh, B., McGrath, J. A., Bauer, J. W., Uitto, J., Hintner, H., Yancey, K. B.
|
|
<strong>Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa.</strong>
|
|
J. Invest. Derm. 110: 165-169, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9457913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9457913</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9457913" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1046/j.1523-1747.1998.00103.x" target="_blank">Full Text</a>]
|
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|
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|
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</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Fine2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fine, J.-D., Eady, R. A. J., Bauer, E. A., Briggaman, R. A., Bruckner-Tuderman, L., Christiano, A., Heagerty, A., Hintner, H., Jonkman, M. F., McGrath, J., McGuire, J., Moshell, A., Shimizu, H., Tadini, G., Uitto, J.
|
|
<strong>Revised classification system for inherited epidermolysis bullosa: report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa.</strong>
|
|
J. Am. Acad. Derm. 42: 1051-1066, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10827412/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10827412</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10827412" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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|
|
</li>
|
|
|
|
<li>
|
|
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|
|
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|
|
<div class="">
|
|
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|
|
Floeth, M., Bruckner-Tuderman, L.
|
|
<strong>Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.</strong>
|
|
Am. J. Hum. Genet. 65: 1530-1537, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10577906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10577906</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10577906[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10577906" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
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[<a href="https://doi.org/10.1086/302672" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Floeth1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Floeth, M., Fiedorowicz, J., Schacke, H., Hammami-Hauasli, N., Owaribe, K., Trueb, R. M., Bruckner-Tuderman, L.
|
|
<strong>Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa.</strong>
|
|
J. Invest. Derm. 111: 528-533, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9740252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9740252</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9740252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1046/j.1523-1747.1998.00325.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Gatalica1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gatalica, B., Pulkkinen, L., Li, K., Kuokkanen, K., Ryynanen, M., McGrath, J. A., Uitto, J.
|
|
<strong>Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa.</strong>
|
|
Am. J. Hum. Genet. 60: 352-365, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9012408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9012408</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9012408" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Has2020" class="mim-anchor"></a>
|
|
<div class="">
|
|
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|
|
Has, C., Bauer, J. W., Bodemer, C., Bolling, M. C., Bruckner-Tuderman, L., Diem, A., Fine, J. D., Heagerty, A., Hovnanian, A., Marinkovich, M. P., Martinez, A. E., McGrath, J. A., and 10 others.
|
|
<strong>Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility.</strong>
|
|
Brit. J. Derm. 183: 614-627, 2020.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32017015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32017015</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32017015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/bjd.18921" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Hintner1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hintner, H., Wolff, K.
|
|
<strong>Generalized atrophic benign epidermolysis bullosa.</strong>
|
|
Arch. Derm. 118: 375-384, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7092249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7092249</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7092249" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Jonkman1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
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|
|
Jonkman, M. F., de Jong, M. C. J. M., Heeres, K., Pas, H. H., van der Meer, J. B., Owaribe, K., Martinez de Velasco, A. M., Niessen, C. M., Sonnenberg, A.
|
|
<strong>180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa.</strong>
|
|
J. Clin. Invest. 95: 1345-1352, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7883981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7883981</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7883981" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI117785" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Jonkman1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
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|
|
Jonkman, M. F., De Jong, M. C. J. M., Heeres, K., Steijlen, P. M., Owaribe, K., Kuster, W., Meurer, M., Gedde-Dahl, T., Jr., Sonnenberg, A., Bruckner-Tuderman, L.
|
|
<strong>Generalized atrophic benign epidermolysis bullosa: either 180-kd bullous pemphigoid antigen or laminin-5 deficiency.</strong>
|
|
Arch. Derm. 132: 145-150, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8629821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8629821</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8629821" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archderm.132.2.145" target="_blank">Full Text</a>]
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<a id="Jonkman2009" class="mim-anchor"></a>
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Jonkman, M. F., Pasmooij, A. M. G.
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<strong>Revertant mosaicism: patchwork in the skin. (Letter)</strong>
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New Eng. J. Med. 360: 1680-1682, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19369679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19369679</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19369679" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJMc0809896" target="_blank">Full Text</a>]
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<a id="Jonkman1997" class="mim-anchor"></a>
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|
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Jonkman, M. F., Scheffer, H., Stulp, R., Pas, H. H., Nijenhuis, M., Heeres, K., Owaribe, K., Pulkkinen, L., Uitto, J.
|
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<strong>Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion.</strong>
|
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Cell 88: 543-551, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9038345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9038345</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9038345" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0092-8674(00)81894-2" target="_blank">Full Text</a>]
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<li>
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<a id="14" class="mim-anchor"></a>
|
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<a id="Kiritsi2011" class="mim-anchor"></a>
|
|
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|
|
<p class="mim-text-font">
|
|
Kiritsi, D., Kern, J. S., Schumann, H., Kohlhase, J., Has, C., Bruckner-Tuderman, L.
|
|
<strong>Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.</strong>
|
|
J. Med. Genet. 48: 450-457, 2011.
|
|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21357940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21357940</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21357940" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2010.086751" target="_blank">Full Text</a>]
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<a id="McGrath1995" class="mim-anchor"></a>
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McGrath, J. A., Gatalica, B., Christiano, A. M., Li, K., Owaribe, K., McMillan, J. R., Eady, R. A. J., Uitto, J.
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<strong>Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa.</strong>
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Nature Genet. 11: 83-86, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7550320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7550320</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7550320" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng0995-83" target="_blank">Full Text</a>]
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<a id="Schumann1997" class="mim-anchor"></a>
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Schumann, H., Hammami-Hauasli, N., Pulkkinen, L., Mauviel, A., Kuster, W., Luthi, U., Owaribe, K., Uitto, J., Bruckner-Tuderman, L.
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<strong>Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa.</strong>
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Am. J. Hum. Genet. 60: 1344-1353, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9199555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9199555</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9199555" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/515463" target="_blank">Full Text</a>]
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<a id="Tasanen2000" class="mim-anchor"></a>
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Tasanen, K., Floeth, M., Schumann, H., Bruckner-Tuderman, L.
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<strong>Hemizygosity for a glycine substitution in collagen XVII: unfolding and degradation of the ectodomain.</strong>
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J. Invest. Derm. 115: 207-212, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10951237/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10951237</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10951237" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1046/j.1523-1747.2000.00049.x" target="_blank">Full Text</a>]
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<a id="Varki2006" class="mim-anchor"></a>
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Varki, R., Sadowski, S., Pfendner, E., Uitto, J.
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<strong>Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.</strong>
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J. Med. Genet. 43: 641-652, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16473856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16473856</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16473856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2005.039685" target="_blank">Full Text</a>]
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Creation Date:
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Anne M. Stumpf : 03/09/2022
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alopez : 03/29/2022
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<strong>#</strong> 619787
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EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4
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EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, NON-HERLITZ TYPE<br />
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EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN; GABEB<br />
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EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT
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<strong>ORPHA:</strong> 79402, 79406;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Inheritance
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Phenotype <br /> mapping key
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10q25.1
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Epidermolysis bullosa, junctional 4, intermediate
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619787
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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COL17A1
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113811
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that intermediate junctional epidermolysis bullosa-4 (JEB4) is caused by homozygous or compound heterozygous mutation in the COL17A1 gene (113811) on chromosome 10q25.</p>
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<strong>Description</strong>
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<p>Intermediate junctional epidermolysis bullosa-4 (JEB4) is an autosomal recessive, nonlethal skin disorder characterized by blistering and erosions at birth or shortly afterward. The plane of cleavage of blistering is through the lamina lucida of the cutaneous basement zone. Blisters may heal with atrophic scarring and variable hypo- or hyperpigmentation. Oral mucosa may be involved. Nails may be lost or dystrophic, and dental enamel defects are present (summary by Has et al., 2020). A previous designation, GABEB (generalized atrophic benign epidermolysis bullosa), was used to classify patients whose phenotype included alopecia; see NOMENCLATURE. </p><p>For a discussion of genetic heterogeneity of the subtypes of JEB, see JEB1A (226650).</p>
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<strong>Nomenclature</strong>
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<p>Generalized atrophic benign epidermolysis bullosa (GABEB) was the designation given to a form of JEB with good prognosis by Hintner and Wolff (1982). Clinical features include continuous blistering since birth, healing with cigarette paper-like atrophic skin with pigment shifts at sites of recurrent blistering with no scarring or milia. Follicular atrophy begins in childhood and may result in scalp baldness, partial absence of eyelashes and eyebrows, and universal alopecia; this alopecia distinguishes GABEB from other forms of non-Herlitz JEB. Nails, dentition, and mucous membranes are affected. Growth is normal and moderate improvement is seen with age (summary by Jonkman et al., 1996). COL17A1 gene mutations were found to underlie the majority of cases classified as GABEB (Floeth and Bruckner-Tuderman, 1999). However, mutations in the LAMB3 gene (150310) have also been identified in patients with this phenotype (Varki et al., 2006). </p><p>In a report of a consensus meeting, Fine et al. (2000) stated that the term 'GABEB' is an inaccurate term to describe this disorder and suggested the term 'non-Herlitz type of junctional epidermolysis bullosa.' </p>
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<strong>Clinical Features</strong>
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<p>McGrath et al. (1995) described a 14-year-old boy with typical clinical features of non-Herlitz JEB and mutation in the COL17A1 gene. The phenotype was described as 'generalized atrophic benign epidermolysis bullosa' (GABEB). Extensive dystrophy was present in all nails, and all teeth showed abnormal enamel, with pitting and widespread caries. Focal scarring alopecia was present on the posterior vertex of the scalp, and there was partial alopecia of eyelashes. Additionally there was patchy macular hyperpigmentation on the trunk. </p><p>Jonkman et al. (1996) stated that GABEB is a form of nonlethal junctional epidermolysis bullosa, clinically characterized by generalized blistering after birth, atrophic healing, and incomplete universal atrophic alopecia with onset in childhood. The authors studied 18 patients with generalized intermediate JEB, 9 of whom presented with clinical characteristics of GABEB. One of these patients was studied further by Jonkman et al. (1997) who found that the presence of patches of clinically unaffected skin were explained by mosaicism caused by reversion of 1 of the 2 mutations in the COL17A1 gene carried by the patient. The patient otherwise displayed generalized blistering after minor trauma resulting in cutaneous atrophy, mild mucous membrane involvement, universal alopecia, pigmentary changes, dental anomalies, and nail dystrophy. There was no evidence of scarring or milia formation. </p><p>Gatalica et al. (1997) studied 2 Finnish families with non-Herlitz JEB and mutation in the COL17A1 gene. Both probands had blisters at birth as well as nail dystrophy, dental anomalies, and alopecia, which are characteristic features of GABEB. The parents of affected individuals in both families were unaffected. </p><p>Schumann et al. (1997) reported 3 patients with non-Herlitz JEB and mutation in the COL17A1 gene. Patient 1 was an 18-year-old female who had multiple blisters of the arms and legs at birth. Mechanically induced and spontaneous blisters continued to appear, mostly on the extremities, head, and face. Blisters healed without scarring but with some atrophy and hyperpigmentation. Periungual blistering and paronychia led to dystrophy of all nails. Beginning at age 6 years, patchy alopecia of the scalp developed, leading to loss of all parietal hair. Erosions regularly occurred on oral mucosa and tongue. Electron microscopy showed junctional blistering and hypoplastic hemidesmosomes. Patient 2 was a 9-year-old girl who had had blistering of the skin and mucous membranes since birth. Mechanically induced blisters occurred usually on the extremities and face and healed without scarring but with skin atrophy. Blistering of the scalp led to diffuse alopecia. Electron microscopy showed junctional blistering and severely hypoplastic hemidesmosomes in the basal keratinocytes at the blister roof. Patients 1 and 2 were described as having the GABEB phenotype. Patient 3, described as having the localisata phenotype, was a 53-year-old male who had had trauma-induced blistering since school age but developed an overall milder phenotype, with blistering predominantly at distal extremities and occasionally of the oral mucosa. All nails were lost and mild skin atrophy developed on the extremities. Electron microscopy showed slight structural alterations of the hemidesmosomes. </p><p>Chavanas et al. (1997) described a 28-year-old Italian woman with JEB, classified as GABEB type, and mutation in the COL17A1 gene. She presented continuous mild blistering of the skin that healed with atrophy, universal alopecia, and dystrophic nails and teeth. Immunohistochemistry showed the blister cleavage plane within the lamina lucida of the basement membrane zone. </p><p>Darling et al. (1998) studied a 19-year-old Austrian man, originally described by Hintner and Wolff (1982) as case 8, with non-Herlitz JEB and mutation in the COL17A1 gene. He had diffuse scalp alopecia and sparse body, pubic, and axillary hair, as well as pitted, discolored teeth. Blisters occurred predominantly on hands, feet, and face. Large melanocytic nevi developed at sites of blistering. </p><p>Floeth et al. (1998) reported 4 unrelated probands with JEB4. Patients 1, 2, and 3, ages 75, 6, and 12 years, respectively, had a similar phenotype, with fragility of skin and oral mucosa since birth and generalized blistering most often affecting the face and extremities. Blisters healed without scarring but with atrophy and hyperpigmentation. Dystrophy or loss of nails as well as sparse hair or alopecia on head or body occurred in all 3. Dental caries were present in 2. The phenotype in these patients was classified as GABEB. Patient 4 was a 34-year-old man with nonscarring blistering since birth, initially generalized but later localized to the distal extremities, with hyperpigmentation and dystrophy of toe nails. He had no dental anomalies but did have a tendency to caries. Scalp and body hair were normal. Based on the clinical presentation, he was initially thought to have epidermolysis bullosa simplex, until antigen mapping revealed junctional splitting and abnormal expression of collagen XVII in the skin. This patient was classified as having the localisata variant of JEB. </p><p>Tasanen et al. (2000) described a 13-year-old German boy with JEB4. He had developed blisters on both hands 3 days after birth, and mechanically induced bullae continued to appear, extremities being most often affected. The blistering activity diminished over the following years but increased again at the age of 12. At that time the blisters became disseminated and healed with hyperpigmentation and hypopigmentation. The overall clinical picture was relatively mild, however. The patient showed no skin atrophy or scarring, but milia were present on the forehead and occasionally in other areas. The teeth were abnormal, with pits and grooves on the front surfaces. The fingernails were normal, but toenails were dystrophic as a consequence of repeated sports trauma. The scalp hair was normal; however, no genital or axillary hair had developed at the age of 13. </p>
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<h4>
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<strong>Inheritance</strong>
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<p>The transmission pattern of JEB4 in the family reported by McGrath et al. (1995) was consistent with autosomal recessive inheritance. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>In a 14-year-old male with intermediate JEB, McGrath et al. (1995) identified compound heterozygosity for nonsense mutations in the COL17A1 gene (113811.0001 and 113811.0002). The unrelated parents were clinically normal and each was heterozygous for 1 of the mutations, respectively. </p><p>In a 53-year-old man (patient 3) with mild manifestations of non-Herlitz JEB, Schumann et al. (1997) detected homozygosity for an arg1303-to-gln mutation of the COL17A1 gene (R1303Q; 113811.0006). He was the only child of third-cousin parents. His heterozygous daughter was unaffected. Patients 1 and 2, with more typical clinical features, were each homozygous for a different nonsense mutation (e.g., R1226X, 113811.0001). </p><p>Gatalica et al. (1997) identified a 5-bp deletion in the COL17A1 gene (113811.0003) in 2 Finnish families with JEB4. The proband of family A was homozygous for the deletion, and the proband of family B carried the deletion in compound heterozygosity with a nonsense mutation (Q1023X; 113811.0004). </p><p>In a 28-year-old Italian woman with JEB4, Chavanas et al. (1997) demonstrated homozygosity for a splice site mutation in intron 31 of the COL17A1 gene (113811.0007). </p><p>In a 19-year-old Austrian man with JEB4, Darling et al. (1999) identified a splicing mutation in intron 31 of the COL17A1 gene (113811.0008), inherited from the unaffected mother. A mutation on the paternal allele could not be identified. </p><p>In 3 patients with JEB, Floeth et al. (1998) identified homozygous or compound heterozygous mutations in the COL17A1 gene. Patients 1 and 2 were homozygous for frameshift mutations resulting in premature termination of the protein (520delAG, 113811.0010 and 2965delG, 113811.0011, respectively). Patient 3 was compound heterozygous for a missense and a frameshift mutation. Patient 4, classified as having the localisata variant, was heterozygous for the R1226X mutation (113811.0001). No mutation was identified on the other COL17A1 allele. The patient had inherited the mutation from his father, who was unaffected; the mutation was present in heterozygosity in his unaffected sister as well. </p><p>In a 13-year-old German boy with JEB4, Tasanen et al. (2000) identified compound heterozygosity for mutations in the COL17A1 gene, a missense mutation (G633D; 113811.0013) and a nonsense mutation (R145X; 113811.0014). The G633D mutation was shown to reduce the thermal stability of the Col15 domain of the COL17A1 protein, resulting in abnormal folding and susceptibility to degradation. </p><p>Kiritsi et al. (2011) identified 34 distinct COL17A1 mutations, including 12 novel mutations, among 43 patients with non-Herlitz JEB of varying clinical severity. Most (69%) were nonsense or predicted to result in premature termination, whereas 19% were missense and 12% were splice site mutations. Although most mutations were private, the R1226X mutation (113811.0001) was found in 10% of alleles. A genotype/phenotype correlation was apparent, with the more severe generalized phenotypes associated with truncating mutations. Detailed investigation of 3 patients with splice site mutations indicated that 12 to 14% residual collagen XVII levels in skin biopsies was sufficient to compensate, resulting in later onset of symptoms, milder cutaneous involvement, and longer life span. The data suggested that low levels of collagen XVII restoration can improve skin stability and alleviate symptoms in patients with COL17A1 mutations. </p><p><strong><em>Revertant Mosaicism</em></strong></p><p>
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In a 28-year-old Dutch woman with a mosaic non-Herlitz JEB phenotype (Jonkman et al., 1995; Jonkman et al., 1996), Jonkman et al. (1997) identified compound heterozygosity for mutations in COL17A1 and demonstrated that the mosaic phenotype was caused by reversion of the maternally inherited 1-bp deletion (113811.0005) due to the nonreciprocal transfer of a part of 1 parental allele for the other by a mitotic gene conversion mechanism. The paternal mutation, R1226X (113811.0001), remained present in all cell samples. Jonkman et al. (1997) stated that this natural gene therapy had implications for the design of gene therapy, since reversion of the affected genotype to carrier genotype of approximately 50% of the basal keratinocytes appeared to be sufficient to normalize the function of the skin, as noted in clinically unaffected skin patches of the patient. </p><p>Jonkman et al. (1995, 1996) observed a mosaic pattern of immunoreactive type XVII collagen in clusters of basal cells in patches of clinically unaffected skin in a Dutch GABEB patient, in whom the remainder of the skin demonstrated characteristic blistering from mechanical trauma. Jonkman et al. (1997) demonstrated that the mosaic phenotype in this compound heterozygote patient was caused by reversion of one of the mutations in the COL17A1 gene. They also demonstrated that the reverse mutation was the result of the nonreciprocal transfer of a part of 1 parental allele for the other by a mitotic gene conversion mechanism. The maternal allele, carrying a 1706delA mutation (113811.0005), showed reversion of the mutation and loss of heterozygosity (LOH) along a tract of at least 381 bp in revertant keratinocytes derived from clinically unaffected skin patches. The paternal mutation, R1226X (113811.0001), remained present in all cell samples. Jonkman et al. (1997) stated that the natural gene therapy reported here has implications for the design of gene therapy, since reversion of the affected genotype to carrier genotype of approximately 50% of the basal keratinocytes appeared to be sufficient to normalize the function of the skin, as noted in clinically unaffected skin patches of the patient with this autosomal recessive disorder. </p><p>Darling et al. (1999) described a 56-year-old Austrian woman with non-Herlitz JEB with a GABEB phenotype and mutation in the COL17A1 gene. She was a member of a large kindred with 5 affected and 5 unaffected sibs that had originally been identified by Hintner and Wolff (1982). While most skin biopsies from her contained no immunoreactive type XVII collagen, the serendipitous observation that her epidermal basement membrane showed focal, interrupted expression of type XVII collagen (not present in other affected family members) suggested that she was mosaic for either a normal COL17A1 allele or a second genetic alteration that allowed production of immunoreactive protein. She did not have the islands of normal-appearing skin present in other patients with revertant mosaicism (e.g., Jonkman et al., 1997). She was found to have a frame-restoring mutation on 1 allele of COL17A1 in addition to homozygosity for a premature termination codon mutation (113811.0009). </p><p>Jonkman and Pasmooij (2009) analyzed data from 20 patients with non-Herlitz junctional EB, 14 of whom had type XVII collagen deficiency due to mutant COL17A1 and 6 of whom had laminin-beta-3 deficiency due to mutant LAMB3. The authors found an unexpectedly high number of patients with revertant patches including 5 (36%) of 14 patients with collagen deficiency and 2 (33%) of 6 with laminin deficiency, as reflected by the reexpression of the deficient protein on immunofluorescence-antigen mapping of skin-biopsy specimens. In addition, at least 6 of the 7 patients with revertant mosaicism had multiple patches, each caused by a different molecular event. Jonkman and Pasmooij (2009) suggested that revertant somatic mosaicism should be considered when a patient has an atypical phenotype. </p>
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<strong>REFERENCES</strong>
|
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</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
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<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chavanas, S., Gache, Y., Tadini, G., Pulkkinen, L., Uitto, J., Ortonne, J. P., Meneguzzi, G.
|
|
<strong>A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa.</strong>
|
|
J. Invest. Derm. 109: 74-78, 1997. Note: Erratum: J. Invest. Derm. 109: 613 only, 1997.
|
|
|
|
|
|
[PubMed: 9204958]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/1523-1747.ep12276614]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Darling, T. N., Yee, C., Bauer, J. W., Hintner, H., Yancey, K. B.
|
|
<strong>Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation.</strong>
|
|
J. Clin. Invest. 103: 1371-1377, 1999.
|
|
|
|
|
|
[PubMed: 10330419]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI4338]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Darling, T. N., Yee, C., Koh, B., McGrath, J. A., Bauer, J. W., Uitto, J., Hintner, H., Yancey, K. B.
|
|
<strong>Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa.</strong>
|
|
J. Invest. Derm. 110: 165-169, 1998.
|
|
|
|
|
|
[PubMed: 9457913]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1046/j.1523-1747.1998.00103.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fine, J.-D., Eady, R. A. J., Bauer, E. A., Briggaman, R. A., Bruckner-Tuderman, L., Christiano, A., Heagerty, A., Hintner, H., Jonkman, M. F., McGrath, J., McGuire, J., Moshell, A., Shimizu, H., Tadini, G., Uitto, J.
|
|
<strong>Revised classification system for inherited epidermolysis bullosa: report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa.</strong>
|
|
J. Am. Acad. Derm. 42: 1051-1066, 2000.
|
|
|
|
|
|
[PubMed: 10827412]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Floeth, M., Bruckner-Tuderman, L.
|
|
<strong>Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.</strong>
|
|
Am. J. Hum. Genet. 65: 1530-1537, 1999.
|
|
|
|
|
|
[PubMed: 10577906]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/302672]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Floeth, M., Fiedorowicz, J., Schacke, H., Hammami-Hauasli, N., Owaribe, K., Trueb, R. M., Bruckner-Tuderman, L.
|
|
<strong>Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa.</strong>
|
|
J. Invest. Derm. 111: 528-533, 1998.
|
|
|
|
|
|
[PubMed: 9740252]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1046/j.1523-1747.1998.00325.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gatalica, B., Pulkkinen, L., Li, K., Kuokkanen, K., Ryynanen, M., McGrath, J. A., Uitto, J.
|
|
<strong>Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa.</strong>
|
|
Am. J. Hum. Genet. 60: 352-365, 1997.
|
|
|
|
|
|
[PubMed: 9012408]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Has, C., Bauer, J. W., Bodemer, C., Bolling, M. C., Bruckner-Tuderman, L., Diem, A., Fine, J. D., Heagerty, A., Hovnanian, A., Marinkovich, M. P., Martinez, A. E., McGrath, J. A., and 10 others.
|
|
<strong>Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility.</strong>
|
|
Brit. J. Derm. 183: 614-627, 2020.
|
|
|
|
|
|
[PubMed: 32017015]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/bjd.18921]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hintner, H., Wolff, K.
|
|
<strong>Generalized atrophic benign epidermolysis bullosa.</strong>
|
|
Arch. Derm. 118: 375-384, 1982.
|
|
|
|
|
|
[PubMed: 7092249]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jonkman, M. F., de Jong, M. C. J. M., Heeres, K., Pas, H. H., van der Meer, J. B., Owaribe, K., Martinez de Velasco, A. M., Niessen, C. M., Sonnenberg, A.
|
|
<strong>180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa.</strong>
|
|
J. Clin. Invest. 95: 1345-1352, 1995.
|
|
|
|
|
|
[PubMed: 7883981]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI117785]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jonkman, M. F., De Jong, M. C. J. M., Heeres, K., Steijlen, P. M., Owaribe, K., Kuster, W., Meurer, M., Gedde-Dahl, T., Jr., Sonnenberg, A., Bruckner-Tuderman, L.
|
|
<strong>Generalized atrophic benign epidermolysis bullosa: either 180-kd bullous pemphigoid antigen or laminin-5 deficiency.</strong>
|
|
Arch. Derm. 132: 145-150, 1996.
|
|
|
|
|
|
[PubMed: 8629821]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archderm.132.2.145]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jonkman, M. F., Pasmooij, A. M. G.
|
|
<strong>Revertant mosaicism: patchwork in the skin. (Letter)</strong>
|
|
New Eng. J. Med. 360: 1680-1682, 2009.
|
|
|
|
|
|
[PubMed: 19369679]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJMc0809896]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jonkman, M. F., Scheffer, H., Stulp, R., Pas, H. H., Nijenhuis, M., Heeres, K., Owaribe, K., Pulkkinen, L., Uitto, J.
|
|
<strong>Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion.</strong>
|
|
Cell 88: 543-551, 1997.
|
|
|
|
|
|
[PubMed: 9038345]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0092-8674(00)81894-2]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kiritsi, D., Kern, J. S., Schumann, H., Kohlhase, J., Has, C., Bruckner-Tuderman, L.
|
|
<strong>Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.</strong>
|
|
J. Med. Genet. 48: 450-457, 2011.
|
|
|
|
|
|
[PubMed: 21357940]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.2010.086751]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McGrath, J. A., Gatalica, B., Christiano, A. M., Li, K., Owaribe, K., McMillan, J. R., Eady, R. A. J., Uitto, J.
|
|
<strong>Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa.</strong>
|
|
Nature Genet. 11: 83-86, 1995.
|
|
|
|
|
|
[PubMed: 7550320]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0995-83]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schumann, H., Hammami-Hauasli, N., Pulkkinen, L., Mauviel, A., Kuster, W., Luthi, U., Owaribe, K., Uitto, J., Bruckner-Tuderman, L.
|
|
<strong>Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa.</strong>
|
|
Am. J. Hum. Genet. 60: 1344-1353, 1997.
|
|
|
|
|
|
[PubMed: 9199555]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/515463]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tasanen, K., Floeth, M., Schumann, H., Bruckner-Tuderman, L.
|
|
<strong>Hemizygosity for a glycine substitution in collagen XVII: unfolding and degradation of the ectodomain.</strong>
|
|
J. Invest. Derm. 115: 207-212, 2000.
|
|
|
|
|
|
[PubMed: 10951237]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1046/j.1523-1747.2000.00049.x]
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</p>
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</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Varki, R., Sadowski, S., Pfendner, E., Uitto, J.
|
|
<strong>Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.</strong>
|
|
J. Med. Genet. 43: 641-652, 2006.
|
|
|
|
|
|
[PubMed: 16473856]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.2005.039685]
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