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<meta name="keywords" content="C5676957, disease or syndrome, epidermolysis bullosa, junctional 6, with pyloric atresia, itga6, jeb6, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Epidermolysis bullosa with pyloric atresia (EB-PA) is characterized by fragility of the skin and mucous membranes, manifested by blistering with little or no trauma; congenital pyloric atresia; renal and/or ureteral anomalies; and protein-losing enteropathy. The course of EB-PA is usually severe and most often lethal in the neonatal period. Those who survive may have severe blistering with formation of granulation tissue on the skin around the mouth, nose, diaper area, fingers, and toes, and internally around the trachea. However, some affected individuals have little or no blistering later in life. Additional features shared by EB-PA and the other major forms of epidermolysis bullosa (EB) include congenital localized absence of skin (aplasia cutis congenita) affecting the extremities and/or head, milia, nail dystrophy, scarring alopecia, hypotrichosis, and corneal abnormalities." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1803348
|
||
ConceptID=C5676957
|
||
-->
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<!--imgCountBooks = 2--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (2)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1157/bin/eb-pa-Image001.gif" src-large="/books/NBK1157/bin/eb-pa-Image001.jpg" /></a><br /><a href="/books/NBK1157/figure/eb-pa.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1157/bin/eb-pa-Image002.gif" src-large="/books/NBK1157/bin/eb-pa-Image002.jpg" /></a><br /><a href="/books/NBK1157/figure/eb-pa.F2/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Epidermolysis bullosa, junctional 6, with pyloric atresia<span class="h1sub">(JEB6)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1803348</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C5676957</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="ITGA6 - ID: 3655 - NCBI Gene" href="/gene/3655" class="medgenPMinfo">ITGA6</a> (2q31.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0859233" target="_blank">MONDO:0859233</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/619817" target="_blank">619817</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1157" target="_blank">Epidermolysis Bullosa with Pyloric Atresia</a></div><div>Epidermolysis bullosa with pyloric atresia (EB-PA) is characterized by fragility of the skin and mucous membranes, manifested by blistering with little or no trauma; congenital pyloric atresia; renal and/or ureteral anomalies; and protein-losing enteropathy. The course of EB-PA is usually severe and most often lethal in the neonatal period. Those who survive may have severe blistering with formation of granulation tissue on the skin around the mouth, nose, diaper area, fingers, and toes, and internally around the trachea. However, some affected individuals have little or no blistering later in life. Additional features shared by EB-PA and the other major forms of epidermolysis bullosa (EB) include congenital localized absence of skin (aplasia cutis congenita) affecting the extremities and/or head, milia, nail dystrophy, scarring alopecia, hypotrichosis, and corneal abnormalities. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1157#eb-pa.Summary" target="NBK1157">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1157#eb-pa.Diagnosis" target="NBK1157">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1157#eb-pa.Clinical_Characteristics" target="NBK1157">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1157#eb-pa.Genetically_Related_Allelic_Disord" target="NBK1157">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1157#eb-pa.Differential_Diagnosis" target="NBK1157">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1157#eb-pa.Management" target="NBK1157">Management</a> | <a class="medgenPMinfo" href="/books/NBK1157#eb-pa.Genetic_Counseling" target="NBK1157">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1157#eb-pa.Resources" target="NBK1157">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1157#eb-pa.Molecular_Genetics" target="NBK1157">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1157#eb-pa.Chapter_Notes" target="NBK1157">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1157#eb-pa.References" target="NBK1157">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Anne W Lucky | Emily Gorell <a href="/books/NBK1157" target="NBK1157" title="NCBI Bookshelf: Epidermolysis Bullosa with Pyloric Atresia">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Junctional epidermolysis bullosa-6 with pyloric atresia (JEB6) is an autosomal recessive blistering disease of skin and mucous membranes. Pyloric atresia is usually evident within a few days of life. Full thickness skin loss (aplasia cutis congenita) may also occur. The plane of skin cleavage is through the lamina lucida of the cutaneous basement membrane zone. JEB5B is usually lethal within the first few weeks of life despite surgical correction of pyloric atresia (summary by Has et al., 2020).
|
||
Another form of junctional epidermolysis bullosa with pyloric atresia (JEB5B; 226730) is caused by mutation in the integrin-beta-4 gene (ITGB4; 147557).
|
||
See also epidermolysis bullosa simplex with pyloric atresia (EBS5C; 612138), which is caused by mutation in the PLEC1 gene (601282).
|
||
For a discussion of genetic heterogeneity of the subtypes of JEB, see JEB1A (226650).
|
||
Reviews
|
||
Has et al. (2020) reviewed the clinical and genetic aspects, genotype-phenotype correlations, disease-modifying factors, and natural history of epidermolysis bullosa. <a target="_blank" href="http://www.omim.org/entry/619817">http://www.omim.org/entry/619817</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Epidermolysis bullosa with pyloric atresia (EB-PA) is a condition that affects the skin and digestive tract. This condition is one of several forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and to blister easily. Affected infants are often born with widespread blistering and areas of missing skin. Blisters continue to appear in response to minor injury or friction, such as rubbing or scratching. Most often, blisters occur over the whole body and affect mucous membranes such as the moist lining of the mouth and digestive tract.<br /><br />Because the signs and symptoms of EB-PA are so severe, many infants with this condition do not survive beyond the first year of life. In those who survive, the condition may improve with time; some affected individuals have little or no blistering later in life. However, many affected individuals who live past infancy experience severe health problems, including blistering and the formation of red, bumpy patches called granulation tissue. Granulation tissue most often forms on the skin around the mouth, nose, fingers, and toes. It can also build up in the airway, leading to difficulty breathing.<br /><br />People with EB-PA are also born with pyloric atresia, which is a blockage (obstruction) of the lower part of the stomach (the pylorus). This obstruction prevents food from emptying out of the stomach into the intestine. Signs of pyloric atresia include vomiting, a swollen (distended) abdomen, and an absence of stool. Pyloric atresia is life-threatening and must be repaired with surgery soon after birth.<br /><br />Other complications of EB-PA can include fusion of the skin between the fingers and toes, abnormalities of the fingernails and toenails, joint deformities (contractures) that restrict movement, and hair loss (alopecia). Some affected individuals are also born with malformations of the urinary tract, including the kidneys and bladder. <a target="_blank" href="https://medlineplus.gov/genetics/condition/epidermolysis-bullosa-with-pyloric-atresia">https://medlineplus.gov/genetics/condition/epidermolysis-bullosa-with-pyloric-atresia</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_5026"><div><strong>Esophageal stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5026</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0014866</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal narrowing of the lumen of the esophagus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5026">Feature record</a> | <a href="/medgen?term=%22Esophageal%20stenosis%22%5BClinical%20Features%5D%20OR%205026%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870867"><div><strong>Congenital pyloric atresia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870867</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4025327</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital atresia of the pylorus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870867">Feature record</a> | <a href="/medgen?term=%22Congenital%20pyloric%20atresia%22%5BClinical%20Features%5D%20OR%20870867%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57535"><div><strong>Microtia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57535</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0152423</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the external ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57535">Feature record</a> | <a href="/medgen?term=%22Microtia%22%5BClinical%20Features%5D%20OR%2057535%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_208888"><div><strong>Oral mucosal blisters</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208888</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0853945</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Blisters arising in the mouth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/208888">Feature record</a> | <a href="/medgen?term=%22Oral%20mucosal%20blisters%22%5BClinical%20Features%5D%20OR%20208888%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343411"><div><strong>Aplasia cutis congenita of scalp</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343411</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855698</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A developmental defect resulting in the congenital absence of skin on the scalp.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343411">Feature record</a> | <a href="/medgen?term=%22Aplasia%20cutis%20congenita%20of%20scalp%22%5BClinical%20Features%5D%20OR%20343411%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_400308"><div><strong>Aplasia cutis congenita on trunk or limbs</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400308</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1863496</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A developmental defect resulting in the congenital absence of skin on the trunk or the limbs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400308">Feature record</a> | <a href="/medgen?term=%22Aplasia%20cutis%20congenita%20on%20trunk%20or%20limbs%22%5BClinical%20Features%5D%20OR%20400308%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_412159"><div><strong>Abnormal blistering of the skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412159</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2132198</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/412159">Feature record</a> | <a href="/medgen?term=%22Abnormal%20blistering%20of%20the%20skin%22%5BClinical%20Features%5D%20OR%20412159%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867365"><div><strong>Lamina lucida cleavage</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867365</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4021730</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867365">Feature record</a> | <a href="/medgen?term=%22Lamina%20lucida%20cleavage%22%5BClinical%20Features%5D%20OR%20867365%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1697259"><div><strong>Hypoplastic dermoepidermal hemidesmosomes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1697259</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5209220</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1697259">Feature record</a> | <a href="/medgen?term=%22Hypoplastic%20dermoepidermal%20hemidesmosomes%22%5BClinical%20Features%5D%20OR%201697259%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870867" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital pyloric atresia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5026" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Esophageal stenosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_412159" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal blistering of the skin</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343411" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aplasia cutis congenita of scalp</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_400308" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aplasia cutis congenita on trunk or limbs</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1697259" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplastic dermoepidermal hemidesmosomes</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867365" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lamina lucida cleavage</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_208888" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oral mucosal blisters</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57535" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microtia</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/12813757">Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pfendner EG,
|
||
Nakano A,
|
||
Pulkkinen L,
|
||
Christiano AM,
|
||
Uitto J</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2003 Jun;23(6):447-56.
|
||
doi: 10.1002/pd.619.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12813757" target="_blank">12813757</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(epidermolysis%20bullosa%2C%20junctional%206%2C%20with%20pyloric%20atresia)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34215433">Overview of complications associated with epidermolysis bullosa: A multicenter retrospective clinical analysis of 152 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raboei E,
|
||
Alabdali A,
|
||
Owiwi Y,
|
||
Yousef Y,
|
||
Alsaggaf A,
|
||
Bustanji N,
|
||
Ghallab A,
|
||
Bakheet K,
|
||
Altaf A</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Surg</span>
|
||
2021 Dec;56(12):2392-2398.
|
||
Epub 2021 Jun 5
|
||
doi: 10.1016/j.jpedsurg.2021.05.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34215433" target="_blank">34215433</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12813757">Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pfendner EG,
|
||
Nakano A,
|
||
Pulkkinen L,
|
||
Christiano AM,
|
||
Uitto J</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2003 Jun;23(6):447-56.
|
||
doi: 10.1002/pd.619.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12813757" target="_blank">12813757</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11251584">Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ashton GH,
|
||
Sorelli P,
|
||
Mellerio JE,
|
||
Keane FM,
|
||
Eady RA,
|
||
McGrath JA</span><br />
|
||
<span class="medgenPMjournal">Br J Dermatol</span>
|
||
2001 Feb;144(2):408-14.
|
||
doi: 10.1046/j.1365-2133.2001.04038.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11251584" target="_blank">11251584</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8832392">Deficiency of the integrin beta 4 subunit in junctional epidermolysis bullosa with pyloric atresia: consequences for hemidesmosome formation and adhesion properties.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Niessen CM,
|
||
van der Raaij-Helmer MH,
|
||
Hulsman EH,
|
||
van der Neut R,
|
||
Jonkman MF,
|
||
Sonnenberg A</span><br />
|
||
<span class="medgenPMjournal">J Cell Sci</span>
|
||
1996 Jul;109 ( Pt 7):1695-706.
|
||
doi: 10.1242/jcs.109.7.1695.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8832392" target="_blank">8832392</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8751975">Defective integrin alpha 6 beta 4 expression in the skin of patients with junctional epidermolysis bullosa and pyloric atresia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown TA,
|
||
Gil SG,
|
||
Sybert VP,
|
||
Lestringant GG,
|
||
Tadini G,
|
||
Caputo R,
|
||
Carter WG</span><br />
|
||
<span class="medgenPMjournal">J Invest Dermatol</span>
|
||
1996 Sep;107(3):384-91.
|
||
doi: 10.1111/1523-1747.ep12363370.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8751975" target="_blank">8751975</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epidermolysis%20bullosa%2C%20junctional%206%2C%20with%20pyloric%20atresia%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32686866">Epidermolysis bullosa with congenital absence of skin: Review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martinez-Moreno A,
|
||
Ocampo-Candiani J,
|
||
Alba-Rojas E</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2020 Sep;37(5):821-826.
|
||
Epub 2020 Jul 20
|
||
doi: 10.1111/pde.14245.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32686866" target="_blank">32686866</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32359087">Phenotypic discordance between siblings with junctional epidermolysis bullosa-pyloric atresia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verma KP,
|
||
Robertson SJ,
|
||
Winship IM</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Dermatol</span>
|
||
2020 Aug;45(6):793-795.
|
||
Epub 2020 May 2
|
||
doi: 10.1111/ced.14223.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32359087" target="_blank">32359087</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12813757">Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pfendner EG,
|
||
Nakano A,
|
||
Pulkkinen L,
|
||
Christiano AM,
|
||
Uitto J</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2003 Jun;23(6):447-56.
|
||
doi: 10.1002/pd.619.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12813757" target="_blank">12813757</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11251584">Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ashton GH,
|
||
Sorelli P,
|
||
Mellerio JE,
|
||
Keane FM,
|
||
Eady RA,
|
||
McGrath JA</span><br />
|
||
<span class="medgenPMjournal">Br J Dermatol</span>
|
||
2001 Feb;144(2):408-14.
|
||
doi: 10.1046/j.1365-2133.2001.04038.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11251584" target="_blank">11251584</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10701857">Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lépinard C,
|
||
Descamps P,
|
||
Meneguzzi G,
|
||
Blanchet-Bardon C,
|
||
Germain DP,
|
||
Larget-Piet L,
|
||
Beringue F,
|
||
Berchel C,
|
||
Muller F,
|
||
Dumez Y</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2000 Jan;20(1):70-5.
|
||
doi: 10.1002/(sici)1097-0223(200001)20:1<70::aid-pd747>3.0.co;2-e.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10701857" target="_blank">10701857</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epidermolysis%20bullosa%2C%20junctional%206%2C%20with%20pyloric%20atresia%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (10)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34215433">Overview of complications associated with epidermolysis bullosa: A multicenter retrospective clinical analysis of 152 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raboei E,
|
||
Alabdali A,
|
||
Owiwi Y,
|
||
Yousef Y,
|
||
Alsaggaf A,
|
||
Bustanji N,
|
||
Ghallab A,
|
||
Bakheet K,
|
||
Altaf A</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Surg</span>
|
||
2021 Dec;56(12):2392-2398.
|
||
Epub 2021 Jun 5
|
||
doi: 10.1016/j.jpedsurg.2021.05.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34215433" target="_blank">34215433</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32686866">Epidermolysis bullosa with congenital absence of skin: Review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martinez-Moreno A,
|
||
Ocampo-Candiani J,
|
||
Alba-Rojas E</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2020 Sep;37(5):821-826.
|
||
Epub 2020 Jul 20
|
||
doi: 10.1111/pde.14245.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32686866" target="_blank">32686866</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26739954">Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mencía Á,
|
||
García M,
|
||
García E,
|
||
Llames S,
|
||
Charlesworth A,
|
||
de Lucas R,
|
||
Vicente A,
|
||
Trujillo-Tiebas MJ,
|
||
Coto P,
|
||
Costa M,
|
||
Vera Á,
|
||
López-Pestaña A,
|
||
Murillas R,
|
||
Meneguzzi G,
|
||
Jorcano JL,
|
||
Conti CJ,
|
||
Escámez Toledano MJ,
|
||
del Río Nechaevsky M</span><br />
|
||
<span class="medgenPMjournal">Exp Dermatol</span>
|
||
2016 Apr;25(4):269-74.
|
||
Epub 2016 Feb 13
|
||
doi: 10.1111/exd.12938.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26739954" target="_blank">26739954</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12813757">Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pfendner EG,
|
||
Nakano A,
|
||
Pulkkinen L,
|
||
Christiano AM,
|
||
Uitto J</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2003 Jun;23(6):447-56.
|
||
doi: 10.1002/pd.619.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12813757" target="_blank">12813757</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11251584">Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ashton GH,
|
||
Sorelli P,
|
||
Mellerio JE,
|
||
Keane FM,
|
||
Eady RA,
|
||
McGrath JA</span><br />
|
||
<span class="medgenPMjournal">Br J Dermatol</span>
|
||
2001 Feb;144(2):408-14.
|
||
doi: 10.1046/j.1365-2133.2001.04038.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11251584" target="_blank">11251584</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epidermolysis%20bullosa%2C%20junctional%206%2C%20with%20pyloric%20atresia%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (6)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34215433">Overview of complications associated with epidermolysis bullosa: A multicenter retrospective clinical analysis of 152 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raboei E,
|
||
Alabdali A,
|
||
Owiwi Y,
|
||
Yousef Y,
|
||
Alsaggaf A,
|
||
Bustanji N,
|
||
Ghallab A,
|
||
Bakheet K,
|
||
Altaf A</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Surg</span>
|
||
2021 Dec;56(12):2392-2398.
|
||
Epub 2021 Jun 5
|
||
doi: 10.1016/j.jpedsurg.2021.05.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34215433" target="_blank">34215433</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12813757">Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pfendner EG,
|
||
Nakano A,
|
||
Pulkkinen L,
|
||
Christiano AM,
|
||
Uitto J</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2003 Jun;23(6):447-56.
|
||
doi: 10.1002/pd.619.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12813757" target="_blank">12813757</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9194858">Genomic organization of the integrin beta 4 gene (ITGB4): a homozygous splice-site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pulkkinen L,
|
||
Kurtz K,
|
||
Xu Y,
|
||
Bruckner-Tuderman L,
|
||
Uitto J</span><br />
|
||
<span class="medgenPMjournal">Lab Invest</span>
|
||
1997 Jun;76(6):823-33.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9194858" target="_blank">9194858</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8832392">Deficiency of the integrin beta 4 subunit in junctional epidermolysis bullosa with pyloric atresia: consequences for hemidesmosome formation and adhesion properties.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Niessen CM,
|
||
van der Raaij-Helmer MH,
|
||
Hulsman EH,
|
||
van der Neut R,
|
||
Jonkman MF,
|
||
Sonnenberg A</span><br />
|
||
<span class="medgenPMjournal">J Cell Sci</span>
|
||
1996 Jul;109 ( Pt 7):1695-706.
|
||
doi: 10.1242/jcs.109.7.1695.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8832392" target="_blank">8832392</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7504435">Ultrastructural findings in epidermolysis bullosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smith LT</span><br />
|
||
<span class="medgenPMjournal">Arch Dermatol</span>
|
||
1993 Dec;129(12):1578-84.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7504435" target="_blank">7504435</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epidermolysis%20bullosa%2C%20junctional%206%2C%20with%20pyloric%20atresia%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
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<div class="rightCol mgCol">
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5676957%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C5676957%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (6)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5676957%5bDISCUI%5d" target="_blank">See all (6)</a></total></li>
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</ul></div>
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</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=619817" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Epidermolysis%20bullosa,%20junctional%206,%20with%20pyloric%20atresia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(epidermolysis%20bullosa%2C%20junctional%206%2C%20with%20pyloric%20atresia)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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|
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=147556" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=3655[geneid]" target="_blank">View ITGA6 variations in ClinVar</a></li><li><a href="/nuccore/210032108" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=619817" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
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</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/epidermolysis_bullosa_junctional_6_with_pyloric_atresia" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Epidermolysis%20bullosa,%20junctional%206,%20with%20pyloric%20atresia" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/epidermolysis-bullosa-with-pyloric-atresia" target="_blank">MedlinePlusGenetics (GHR)</a></li></ul></div>
|
||
</div>
|
||
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|
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|
||
<div class="portlet_head">
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<h3>Reviews</h3>
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||
</div>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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<div class="portlet_content">
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<ul>
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<li>
|
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<a href="/pubmed/20301336" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Epidermolysis%20bullosa,%20junctional%206,%20with%20pyloric%20atresia" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Epidermolysis%20bullosa,%20junctional%206,%20with%20pyloric%20atresia%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
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||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
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<div class="portlet brieflink">
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||
<div class="portlet_head">
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<div class="portlet_title">
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<h3>Related information</h3>
|
||
</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc3795a68b6b5afcb72502">Epidermolysis bullosa, junctional 6, with pyloric atresia</a>
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<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cc3791a68b6b5afcb71309">C5676956[conceptid] <span class="number">(1)</span></a>
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