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<meta name="keywords" content="C0078918, albinism, oculocutaneous, albinismus totalis, albinismus universalis, complete perfect albinism, complete universal albinism, congenital abnormality, non-syndromic oculocutaneous albinism, nonsyndromic oculocutaneous albinism, oca, oca - oculocutaneous albinism, oculocutaneous albinism, total albinism, 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="Researchers have identified multiple types of oculocutaneous albinism, which are distinguished by their specific skin, hair, and eye color changes, and by their genetic cause. Oculocutaneous albinism type 1 is characterized by white hair, very pale skin, and light-colored irises. Type 2 is typically less severe than type 1; the skin is usually pale and hair may be light yellow, blond, or light brown. Type 3 causes reddish-brown skin, ginger or red hair, and hazel or brown irises. Type 3 is often associated with milder vision abnormalities than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to those seen in people with type 2.\n\nOculocutaneous albinism is a group of conditions that affect the color of (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. \n\nOculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); eyes that do not point in the same direction (strabismus); and increased sensitivity to light (photophobia).\n\nThere are several additional, rare types of oculocutaneous albinism." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=36250
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ConceptID=C0078918
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Oculocutaneous albinism</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>36250</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.">C0078918</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Albinism, Oculocutaneous; Oculocutaneous Albinism</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Oculocutaneous albinism (63844009); Complete perfect albinism (63844009); Albinismus totalis (63844009); Albinismus universalis (63844009); Total albinism (63844009); Complete universal albinism (63844009); OCA - Oculocutaneous albinism (63844009)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/83938">LRMDA</a>, <a target="_blank" href="/gene/51151">SLC45A2</a>, <a target="_blank" href="/gene/11152">WDR45</a>, <a target="_blank" href="/gene/7306">TYRP1</a>, <a target="_blank" href="/gene/7299">TYR</a>, <a target="_blank" href="/gene/4948">OCA2</a>, <a target="_blank" href="/gene/4157">MC1R</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0018910" target="_blank">MONDO:0018910</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS203100" target="_blank">PS203100</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=55">ORPHA55</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>
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<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Researchers have identified multiple types of oculocutaneous albinism, which are distinguished by their specific skin, hair, and eye color changes, and by their genetic cause. Oculocutaneous albinism type 1 is characterized by white hair, very pale skin, and light-colored irises. Type 2 is typically less severe than type 1; the skin is usually pale and hair may be light yellow, blond, or light brown. Type 3 causes reddish-brown skin, ginger or red hair, and hazel or brown irises. Type 3 is often associated with milder vision abnormalities than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to those seen in people with type 2.<br /><br />Oculocutaneous albinism is a group of conditions that affect the color of (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. <br /><br />Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); eyes that do not point in the same direction (strabismus); and increased sensitivity to light (photophobia).<br /><br />There are several additional, rare types of oculocutaneous albinism. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0078918[DISCUI]&test_type=Clinical" ref="ncbi_uid=36250">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=36250" ref="ncbi_uid=36250">V</a></span></span><span class="TLline">Oculocutaneous albinism</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268494[DISCUI]&test_type=Clinical" ref="ncbi_uid=82809">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82809" target="_blank" href="/omim/203100">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=82809" ref="ncbi_uid=82809">V</a></span></span><span class="TLline"><a href="/medgen/82809" ref="tree=GTR&ncbi_uid=82809&link_uid=82809" title="View MedGen record for 'Oculocutaneous albinism type 1'">Oculocutaneous albinism type 1</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551504[DISCUI]&test_type=Clinical" ref="ncbi_uid=1643910">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1643910" target="_blank" href="/omim/203100">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK590568/" ref="ncbi_uid=1643910">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1643910" ref="ncbi_uid=1643910">V</a></span></span><span class="TLline"><a href="/medgen/1643910" ref="tree=GTR&ncbi_uid=1643910&link_uid=1643910" title="View MedGen record for 'Oculocutaneous albinism type 1A'">Oculocutaneous albinism type 1A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847024[DISCUI]&test_type=Clinical" ref="ncbi_uid=337712">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=337712" target="_blank" href="/omim/606933">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK590568/" ref="ncbi_uid=337712">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=337712" ref="ncbi_uid=337712">V</a></span></span><span class="TLline"><a href="/medgen/337712" ref="tree=GTR&ncbi_uid=337712&link_uid=337712" title="View MedGen record for 'Oculocutaneous albinism type 1B'">Oculocutaneous albinism type 1B</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0342683[DISCUI]&test_type=Clinical" ref="ncbi_uid=87450">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=87450" target="_blank" href="/omim/115501">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK590568/" ref="ncbi_uid=87450">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=87450" ref="ncbi_uid=87450">V</a></span></span><span class="TLline"><a href="/medgen/87450" ref="tree=GTR&ncbi_uid=87450&link_uid=87450" title="View MedGen record for 'Oculocutaneous albinism type 3'">Oculocutaneous albinism type 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847836[DISCUI]&test_type=Clinical" ref="ncbi_uid=338324">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=338324" target="_blank" href="/omim/606202">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1510%20OR%20NBK590568)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=338324">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=338324" ref="ncbi_uid=338324">V</a></span></span><span class="TLline"><a href="/medgen/338324" ref="tree=GTR&ncbi_uid=338324&link_uid=338324" title="View MedGen record for 'Oculocutaneous albinism type 4'">Oculocutaneous albinism type 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3888401[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=854888">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854888" target="_blank" href="/omim/615312">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/854888" ref="tree=GTR&ncbi_uid=854888&link_uid=854888" title="View MedGen record for 'Oculocutaneous albinism type 5'">Oculocutaneous albinism type 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3808786[DISCUI]&test_type=Clinical" ref="ncbi_uid=815116">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815116" target="_blank" href="/omim/614537">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK590568/" ref="ncbi_uid=815116">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=815116" ref="ncbi_uid=815116">V</a></span></span><span class="TLline"><a href="/medgen/815116" ref="tree=GTR&ncbi_uid=815116&link_uid=815116" title="View MedGen record for 'Oculocutaneous albinism type 7'">Oculocutaneous albinism type 7</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268495[DISCUI]&test_type=Clinical" ref="ncbi_uid=82810">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82810" target="_blank" href="/omim/203200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK590568/" ref="ncbi_uid=82810">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=82810" ref="ncbi_uid=82810">V</a></span></span><span class="TLline"><a href="/medgen/82810" ref="tree=GTR&ncbi_uid=82810&link_uid=82810" title="View MedGen record for 'Tyrosinase-positive oculocutaneous albinism'">Tyrosinase-positive oculocutaneous albinism</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1845238" ref="tree=MeSH" title="MedGen record for Abnormality of the skin">Abnormality of the skin</a></span><ul><li><span class="TLline"><a href="/medgen/869110" ref="tree=MeSH" title="MedGen record for Abnormal skin morphology">Abnormal skin morphology</a></span><ul><li><span class="TLline"><a href="/medgen/224697" ref="tree=MeSH" title="MedGen record for Abnormality of skin pigmentation">Abnormality of skin pigmentation</a></span><ul><li><span class="TLline"><a href="/medgen/102477" ref="tree=MeSH" title="MedGen record for Hypopigmentation of the skin">Hypopigmentation of the skin</a></span><ul><li><span class="TLline"><a href="/medgen/340426" ref="tree=MeSH" title="MedGen record for Generalized hypopigmentation">Generalized hypopigmentation</a></span><ul><li><span class="TLline"><a href="/medgen/182" ref="tree=MeSH" title="MedGen record for Albinism">Albinism</a></span><ul><li><span class="matched_ds">Oculocutaneous albinism</span><ul><li><span class="TLline"><a href="/medgen/36313" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome">Hermansky-Pudlak syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/419514" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 1">Hermansky-Pudlak syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/374912" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 2">Hermansky-Pudlak syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/854708" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 3">Hermansky-Pudlak syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/483344" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 4">Hermansky-Pudlak syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/854711" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 5">Hermansky-Pudlak syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/854714" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 6">Hermansky-Pudlak syndrome 6</a></span></li><li><span class="TLline"><a href="/medgen/481386" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 7">Hermansky-Pudlak syndrome 7</a></span></li><li><span class="TLline"><a href="/medgen/854728" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 8">Hermansky-Pudlak syndrome 8</a></span></li><li><span class="TLline"><a href="/medgen/481656" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 9">Hermansky-Pudlak syndrome 9</a></span></li><li><span class="TLline"><a href="/medgen/934713" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 10">Hermansky-Pudlak syndrome 10</a></span></li><li><span class="TLline"><a href="/medgen/1843223" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome with pulmonary fibrosis">Hermansky-Pudlak syndrome with pulmonary fibrosis</a></span></li><li><span class="TLline"><a href="/medgen/1842321" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome without pulmonary fibrosis">Hermansky-Pudlak syndrome without pulmonary fibrosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82809" ref="tree=MeSH" title="MedGen record for Oculocutaneous albinism type 1">Oculocutaneous albinism type 1</a></span><ul><li><span class="TLline"><a href="/medgen/1842241" ref="tree=MeSH" title="MedGen record for Minimal pigment oculocutaneous albinism type 1">Minimal pigment oculocutaneous albinism type 1</a></span></li><li><span class="TLline"><a href="/medgen/1643910" ref="tree=MeSH" title="MedGen record for Oculocutaneous albinism type 1A">Oculocutaneous albinism type 1A</a></span></li><li><span class="TLline"><a href="/medgen/337712" ref="tree=MeSH" title="MedGen record for Oculocutaneous albinism type 1B">Oculocutaneous albinism type 1B</a></span></li><li><span class="TLline"><a href="/medgen/337736" ref="tree=MeSH" title="MedGen record for Temperature-sensitive oculocutaneous albinism type 1">Temperature-sensitive oculocutaneous albinism type 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/87450" ref="tree=MeSH" title="MedGen record for Oculocutaneous albinism type 3">Oculocutaneous albinism type 3</a></span></li><li><span class="TLline"><a href="/medgen/338324" ref="tree=MeSH" title="MedGen record for Oculocutaneous albinism type 4">Oculocutaneous albinism type 4</a></span></li><li><span class="TLline"><a href="/medgen/854888" ref="tree=MeSH" title="MedGen record for Oculocutaneous albinism type 5">Oculocutaneous albinism type 5</a></span></li><li><span class="TLline"><a href="/medgen/811705" ref="tree=MeSH" title="MedGen record for Oculocutaneous albinism type 6">Oculocutaneous albinism type 6</a></span></li><li><span class="TLline"><a href="/medgen/815116" ref="tree=MeSH" title="MedGen record for Oculocutaneous albinism type 7">Oculocutaneous albinism type 7</a></span></li><li><span class="TLline"><a href="/medgen/1754121" ref="tree=MeSH" title="MedGen record for Oculocutaneous albinism type 8">Oculocutaneous albinism type 8</a></span></li><li><span class="TLline"><a href="/medgen/82810" ref="tree=MeSH" title="MedGen record for Tyrosinase-positive oculocutaneous albinism">Tyrosinase-positive oculocutaneous albinism</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=311&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Oculocutaneous albinism</span> in Orphanet.</div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/31777350">Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Marçon CR,
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Maia M</span><br />
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<span class="medgenPMjournal">An Bras Dermatol</span>
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2019 Sep-Oct;94(5):503-520.
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Epub 2019 Sep 30
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doi: 10.1016/j.abd.2019.09.023.
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<span class="bold">PMID: </span><a href="/pubmed/31777350" target="_blank">31777350</a><a href="/pmc/articles/PMC6857599" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31356463">Application of multiplex ligation-dependent probe amplification in the genetic testing of oculocutaneous albinism.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zhang YZ,
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Bai DY,
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Qi Z,
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||
Zhao SZ,
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||
Yang XM,
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Li W,
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||
Wei AH</span><br />
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<span class="medgenPMjournal">Chin Med J (Engl)</span>
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2019 Aug 20;132(16):2011-2012.
|
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doi: 10.1097/CM9.0000000000000356.
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<span class="bold">PMID: </span><a href="/pubmed/31356463" target="_blank">31356463</a><a href="/pmc/articles/PMC6708679" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/24518832">Clinical utility gene card for: Oculocutaneous albinism.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Grønskov K,
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Brøndum-Nielsen K,
|
||
Lorenz B,
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||
Preising MN</span><br />
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||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2014 Aug;22(8)
|
||
Epub 2014 Feb 12
|
||
doi: 10.1038/ejhg.2013.307.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24518832" target="_blank">24518832</a><a href="/pmc/articles/PMC4350605" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22oculocutaneous%20albinism%22%5Btiab%3A~0%5D)%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 (31)</a></div></div>
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||
</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_114">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Suggested_Reading">Suggested Reading</h1><a sid="114" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><h3 class="subhead">PubMed</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26389333">Genetics of Skin Cancer (PDQ®): Health Professional Version.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">PDQ Cancer Genetics Editorial Board</span><br />
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||
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||
2002
|
||
<span class="bold">PMID: </span><a href="/pubmed/26389333" target="_blank">26389333</a></div>
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||
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<div class="nl"><a target="_blank" href="/pubmed/26389258">Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">PDQ Cancer Genetics Editorial Board</span><br />
|
||
|
||
2002
|
||
<span class="bold">PMID: </span><a href="/pubmed/26389258" target="_blank">26389258</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></a></div></div>
|
||
</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>
|
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<div class="nl"><a target="_blank" href="/pubmed/35217926">Oculocutaneous albinism: epidemiology, genetics, skin manifestation, and psychosocial issues.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Ma EZ,
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||
Zhou AE,
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||
Hoegler KM,
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||
Khachemoune A</span><br />
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<span class="medgenPMjournal">Arch Dermatol Res</span>
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2023 Mar;315(2):107-116.
|
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<div class="nl"><a target="_blank" href="/pubmed/8804841">Oculocutaneous albinism.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sethi R,
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Janniger CK</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/33602721">Fentanyl transdermal patches induced chemical leucoderma.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wattanapisit S,
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Wattanapisit A,
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Laksanapiya P,
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Petmali P</span><br />
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<span class="medgenPMjournal">BMJ Support Palliat Care</span>
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<span class="bold">PMID: </span><a href="/pubmed/33602721" target="_blank">33602721</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30996339">Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Shakil M,
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Harlalka GV,
|
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Ali S,
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Lin S,
|
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D'Atri I,
|
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Hussain S,
|
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Nasir A,
|
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Shahzad MA,
|
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Ullah MI,
|
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Self JE,
|
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Baple EL,
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Crosby AH,
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Mahmood S</span><br />
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<span class="medgenPMjournal">Eye (Lond)</span>
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Epub 2019 Apr 17
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<span class="bold">PMID: </span><a href="/pubmed/30996339" target="_blank">30996339</a><a href="/pmc/articles/PMC7005860" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23504663">DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Simeonov DR,
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Wang X,
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Wang C,
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Sergeev Y,
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Dolinska M,
|
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Bower M,
|
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Fischer R,
|
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Winer D,
|
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Dubrovsky G,
|
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Balog JZ,
|
||
Huizing M,
|
||
Hart R,
|
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Zein WM,
|
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Gahl WA,
|
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Brooks BP,
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Adams DR</span><br />
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<span class="medgenPMjournal">Hum Mutat</span>
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2013 Jun;34(6):827-35.
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Epub 2013 Apr 30
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doi: 10.1002/humu.22315.
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<span class="bold">PMID: </span><a href="/pubmed/23504663" target="_blank">23504663</a><a href="/pmc/articles/PMC3959784" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/11032715">Genetic skin disorders.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/10877819">Lysosome-related organelles.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dell'Angelica EC,
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Mullins C,
|
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Caplan S,
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Bonifacino JS</span><br />
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<span class="medgenPMjournal">FASEB J</span>
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2000 Jul;14(10):1265-78.
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<span class="bold">PMID: </span><a href="/pubmed/10877819" target="_blank">10877819</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Oculocutaneous%20albinism%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 (224)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/37440261">Determining a Worldwide Prevalence of Oculocutaneous Albinism: A Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kromberg JGR,
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Flynn KA,
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<span class="bold">PMID: </span><a href="/pubmed/37440261" target="_blank">37440261</a><a href="/pmc/articles/PMC10353740" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35414415">Oral manifestations of Chediak-Higashi syndrome: A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">de Arruda JAA,
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Abreu LG,
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Schuch LF,
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Souza VG,
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Alves TVL,
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Martins-Andrade B,
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Shetty SS,
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Monteiro JLGC,
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Mendonça EF,
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<span class="bold">PMID: </span><a href="/pubmed/35414415" target="_blank">35414415</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33521972">The presentation and outcomes of Hermansky-Pudlak syndrome in obstetrics and gynecological settings: A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Obeng-Tuudah D,
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Hussein BA,
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Hakim A,
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|
||
<span class="medgenPMjournal">Int J Gynaecol Obstet</span>
|
||
2021 Sep;154(3):412-426.
|
||
Epub 2021 Mar 9
|
||
doi: 10.1002/ijgo.13632.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33521972" target="_blank">33521972</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Oculocutaneous%20albinism%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0078918%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (10)</a></li>
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<li><a href="/gtr/tests?term=C0078918%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (2)</a></li>
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