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Entry
- %600975 - GLAUCOMA 3, PRIMARY INFANTILE, B; GLC3B
- OMIM
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<span class="h4">%600975</span>
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<strong>Table of Contents</strong>
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<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>ORPHA:</strong> 98976<br />
">ICD+</a>
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<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description or locus, molecular basis unknown">
<span class="text-danger"><strong>%</strong></span>
600975
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
GLAUCOMA 3, PRIMARY INFANTILE, B; GLC3B
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
GLAUCOMA, PRIMARY CONGENITAL, TYPE B<br />
GLC3, TYPE B
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="cytogeneticLocation" class="mim-anchor"></a>
<p>
<span class="mim-text-font">
<strong>
<em>
Cytogenetic location: <a href="/geneMap/1/109?start=-3&limit=10&highlight=109">1p36.2-p36.1</a>
&nbsp;
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:7100001-27600000&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">1:7,100,001-27,600,000</a> </span>
</em>
</strong>
</span>
</p>
</div>
<div>
<br />
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<strong>Gene-Phenotype Relationships</strong>
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<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
</tr>
</thead>
<tbody>
<tr>
<td rowspan="1">
<span class="mim-font">
<a href="/geneMap/1/109?start=-3&limit=10&highlight=109">
1p36.2-p36.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Glaucoma 3, primary infantile, B
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600975"> 600975 </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="2 - The disorder was placed on the map by statistical methods">2</abbr>
</span>
</td>
</tr>
</tbody>
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</div>
</div>
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<div class="small" style="margin: 5px">
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<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>
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</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">
- Primary congenital glaucoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204113001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204113001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/415176004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">415176004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q15.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q15.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020302&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020302</a>, <a href="https://bioportal.bioontology.org/search?q=C1533041&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1533041</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008007</a>]</span><br />
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
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<p>For a general phenotypic description and a discussion of primary congenital glaucoma (PCG), see GLC3A (<a href="/entry/231300">231300</a>).</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="mapping" class="mim-anchor"></a>
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
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<strong>Mapping</strong>
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<span class="mim-text-font">
<p><a href="#2" class="mim-tip-reference" title="Sarfarazi, M., Akarsu, A. N., Hossain, A., Turacli, M. E., Aktan, S. G., Barsoum-Homsy, M., Chevrette, L., Sayli, B. S. &lt;strong&gt;Assignment of a locus (GLC3A) for primary congenital glaucoma (buphthalmos) to 2p21 and evidence for genetic heterogeneity.&lt;/strong&gt; Genomics 30: 171-177, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8586416/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8586416&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1995.9888&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8586416">Sarfarazi et al. (1995)</a> mapped a locus for primary congenital glaucoma (designated GLC3A; <a href="/entry/231300">231300</a>) to 2p21. Six of 17 families, however, failed to show linkage to the 2p21 region. <a href="#1" class="mim-tip-reference" title="Akarsu, A. N., Turacli, M. E., Aktan, S. G., Barsoum-Homsy, M., Chevrette, L, Sayli, B. S., Sarfarazi, M. &lt;strong&gt;A second locus (GLC3B) for primary congenital glaucoma (buphthalmos) maps to the 1p36 region.&lt;/strong&gt; Hum. Molec. Genet. 5: 1199-1203, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8842741/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8842741&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/5.8.1199&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8842741">Akarsu et al. (1996)</a> studied 8 families with primary congenital glaucoma unlinked to chromosome 2p21 to search for the chromosomal location of a second GLC3 locus. They mapped the GLC3B locus to chromosome 1p36.2-p36.1 in a region situated centromeric to the neuroblastoma (<a href="/entry/256700">256700</a>) and Charcot-Marie-Tooth type 2A (<a href="/entry/118210">118210</a>) loci. <a href="#1" class="mim-tip-reference" title="Akarsu, A. N., Turacli, M. E., Aktan, S. G., Barsoum-Homsy, M., Chevrette, L, Sayli, B. S., Sarfarazi, M. &lt;strong&gt;A second locus (GLC3B) for primary congenital glaucoma (buphthalmos) maps to the 1p36 region.&lt;/strong&gt; Hum. Molec. Genet. 5: 1199-1203, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8842741/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8842741&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/5.8.1199&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8842741">Akarsu et al. (1996)</a> reported that 4 of the families showed linkage to 1p36.2-1p36.1; the maximum 2-point lod score was 4.510 with the marker D1S2834. Pairwise and multipoint linkage analysis and haplotype inspection revealed that, in the remaining 4 families, GLC3 was not linked to this region of chromosome 1. Further linkage analysis in the families studied by <a href="#1" class="mim-tip-reference" title="Akarsu, A. N., Turacli, M. E., Aktan, S. G., Barsoum-Homsy, M., Chevrette, L, Sayli, B. S., Sarfarazi, M. &lt;strong&gt;A second locus (GLC3B) for primary congenital glaucoma (buphthalmos) maps to the 1p36 region.&lt;/strong&gt; Hum. Molec. Genet. 5: 1199-1203, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8842741/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8842741&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/5.8.1199&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8842741">Akarsu et al. (1996)</a> provided information on the map order of loci in the 1p36.2-36.1 region. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8586416+8842741" 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>
</span>
<div>
<br />
</div>
</div>
</div>
<div>
<a id="references"class="mim-anchor"></a>
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
<li>
<a id="1" class="mim-anchor"></a>
<a id="Akarsu1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Akarsu, A. N., Turacli, M. E., Aktan, S. G., Barsoum-Homsy, M., Chevrette, L, Sayli, B. S., Sarfarazi, M.
<strong>A second locus (GLC3B) for primary congenital glaucoma (buphthalmos) maps to the 1p36 region.</strong>
Hum. Molec. Genet. 5: 1199-1203, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8842741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8842741</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8842741" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/5.8.1199" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="2" class="mim-anchor"></a>
<a id="Sarfarazi1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sarfarazi, M., Akarsu, A. N., Hossain, A., Turacli, M. E., Aktan, S. G., Barsoum-Homsy, M., Chevrette, L., Sayli, B. S.
<strong>Assignment of a locus (GLC3A) for primary congenital glaucoma (buphthalmos) to 2p21 and evidence for genetic heterogeneity.</strong>
Genomics 30: 171-177, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8586416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8586416</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8586416" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1006/geno.1995.9888" target="_blank">Full Text</a>]
</p>
</div>
</li>
</ol>
<div>
<br />
</div>
</div>
</div>
<div>
<a id="contributors" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="mim-text-font">
Contributors:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Moyra Smith - updated : 9/6/1996
</span>
</div>
</div>
</div>
<div>
<a id="creationDate" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="text-nowrap mim-text-font">
Creation Date:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Victor A. McKusick : 1/11/1996
</span>
</div>
</div>
</div>
<div>
<a id="editHistory" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="text-nowrap mim-text-font">
<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
alopez : 10/14/2009
</span>
</div>
</div>
<div class="row collapse" id="mimCollapseEditHistory">
<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
joanna : 3/18/2004<br>dkim : 12/11/1998<br>terry : 2/10/1997<br>mark : 9/6/1996<br>mark : 9/6/1996<br>mark : 9/6/1996<br>mark : 3/1/1996<br>terry : 3/1/1996<br>mark : 1/14/1996
</span>
</div>
</div>
</div>
</div>
</div>
</div>
<div class="container visible-print-block">
<div class="row">
<div class="col-md-8 col-md-offset-1">
<div>
<div>
<h3>
<span class="mim-font">
<strong>%</strong> 600975
</span>
</h3>
</div>
<div>
<h3>
<span class="mim-font">
GLAUCOMA 3, PRIMARY INFANTILE, B; GLC3B
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<div >
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
GLAUCOMA, PRIMARY CONGENITAL, TYPE B<br />
GLC3, TYPE B
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<p>
<span class="mim-text-font">
<strong>ORPHA:</strong> 98976; &nbsp;
</span>
</p>
</div>
<div>
<br />
</div>
<div>
<p>
<span class="mim-text-font">
<strong>
<em>
Cytogenetic location: 1p36.2-p36.1
&nbsp;
Genomic coordinates <span class="small">(GRCh38)</span> : 1:7,100,001-27,600,000 </span>
</em>
</strong>
</span>
</p>
</div>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Gene-Phenotype Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
</tr>
</thead>
<tbody>
<tr>
<td rowspan="1">
<span class="mim-font">
1p36.2-p36.1
</span>
</td>
<td>
<span class="mim-font">
Glaucoma 3, primary infantile, B
</span>
</td>
<td>
<span class="mim-font">
600975
</span>
</td>
<td>
<span class="mim-font">
Autosomal recessive
</span>
</td>
<td>
<span class="mim-font">
2
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>TEXT</strong>
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<p>For a general phenotypic description and a discussion of primary congenital glaucoma (PCG), see GLC3A (231300).</p>
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<strong>Mapping</strong>
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<p>Sarfarazi et al. (1995) mapped a locus for primary congenital glaucoma (designated GLC3A; 231300) to 2p21. Six of 17 families, however, failed to show linkage to the 2p21 region. Akarsu et al. (1996) studied 8 families with primary congenital glaucoma unlinked to chromosome 2p21 to search for the chromosomal location of a second GLC3 locus. They mapped the GLC3B locus to chromosome 1p36.2-p36.1 in a region situated centromeric to the neuroblastoma (256700) and Charcot-Marie-Tooth type 2A (118210) loci. Akarsu et al. (1996) reported that 4 of the families showed linkage to 1p36.2-1p36.1; the maximum 2-point lod score was 4.510 with the marker D1S2834. Pairwise and multipoint linkage analysis and haplotype inspection revealed that, in the remaining 4 families, GLC3 was not linked to this region of chromosome 1. Further linkage analysis in the families studied by Akarsu et al. (1996) provided information on the map order of loci in the 1p36.2-36.1 region. </p>
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<strong>REFERENCES</strong>
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Akarsu, A. N., Turacli, M. E., Aktan, S. G., Barsoum-Homsy, M., Chevrette, L, Sayli, B. S., Sarfarazi, M.
<strong>A second locus (GLC3B) for primary congenital glaucoma (buphthalmos) maps to the 1p36 region.</strong>
Hum. Molec. Genet. 5: 1199-1203, 1996.
[PubMed: 8842741]
[Full Text: https://doi.org/10.1093/hmg/5.8.1199]
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</li>
<li>
<p class="mim-text-font">
Sarfarazi, M., Akarsu, A. N., Hossain, A., Turacli, M. E., Aktan, S. G., Barsoum-Homsy, M., Chevrette, L., Sayli, B. S.
<strong>Assignment of a locus (GLC3A) for primary congenital glaucoma (buphthalmos) to 2p21 and evidence for genetic heterogeneity.</strong>
Genomics 30: 171-177, 1995.
[PubMed: 8586416]
[Full Text: https://doi.org/10.1006/geno.1995.9888]
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Moyra Smith - updated : 9/6/1996
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Victor A. McKusick : 1/11/1996
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