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<meta name="keywords" content="C2751307, disease or syndrome, gdf6, gdf6 isolated microphthalmia, isolated microphthalmia 4, isolated microphthalmia caused by mutation in gdf6, isolated microphthalmia type 4, mcop4, microphthalmia, isolated 4, microphthalmia, isolated type 4, 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="Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=414346
|
||
ConceptID=C2751307
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Isolated microphthalmia 4<span class="h1sub">(MCOP4)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414346</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:">C2751307</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Microphthalmia, Isolated 4</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="GDF6 - ID: 392255 - NCBI Gene" href="/gene/392255" class="medgenPMinfo">GDF6</a> (8q22.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013130" target="_blank">MONDO:0013130</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/613094" target="_blank">613094</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">
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||
<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">Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene. [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</div>
|
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</div>
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||
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<div class="portlet mgSection" id="ID_102">
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<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>
|
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_575082"><div><strong>Absent testis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>575082</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.">C0342526</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Testis not palpable in the scrotum or inguinal canal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/575082">Feature record</a> | <a href="/medgen?term=%22Absent%20testis%22%5BClinical%20Features%5D%20OR%20575082%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_67394"><div><strong>Postaxial polydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67394</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.">C0220697</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Polydactyly refers to the occurrence of supernumerary digits and is the most frequent of congenital hand and foot deformities. Based on the location of the extra digits, polydactyly can be classified into preaxial, involving the thumb or great toe; postaxial, affecting the fifth digit; and central, involving the 3 central digits. Postaxial polydactyly (PAP) is further subclassified into 2 types: in type A, a well-formed extra digit articulates with the fifth or a sixth metacarpal, whereas in type B, a rudimentary, poorly developed extra digit is present (summary by Umm-e-Kalsoom et al., 2012). Genetic Heterogeneity of Postaxial Polydactyly Other forms of postaxial polydactyly type A include PAPA2 (602085) on chromosome 13q21; PAPA3 (607324) on chromosome 19p13; PAPA4 (608562) on chromosome 7q22; PAPA5 (263450) on chromosome 13q13; PAPA6 (615226), caused by mutation in the ZNF141 gene (194648) on chromosome 4p16; PAPA7 (617642), caused by mutation in the IQCE gene (617631) on chromosome 7p22; PAPA8 (618123), caused by mutation in the GLI1 gene (165220) on chromosome 12q13; PAPA9 (618219), caused by mutation in the CIBAR1 gene (617273) on chromosome 8q22; and PAPA10 (618498), caused by mutation in the KIAA0825 gene (617266) on chromosome 5q15.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67394">Feature record</a> | <a href="/medgen?term=%22Postaxial%20polydactyly%22%5BClinical%20Features%5D%20OR%2067394%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1046"><div><strong>Congenital ocular coloboma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1046</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.">C0009363</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in one of several parts of the eye, including the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or the optic nerves, which carry information from the eyes to the brain.\n\nColobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision. Colobomas affecting the iris, which result in a "keyhole" appearance of the pupil, generally do not lead to vision loss. Colobomas involving the retina result in vision loss in specific parts of the visual field. Large retinal colobomas or those affecting the optic nerve can cause low vision, which means vision loss that cannot be completely corrected with glasses or contact lenses.\n\nSome people with coloboma also have a condition called microphthalmia. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with coloboma may also have other eye abnormalities, including clouding of the lens of the eye (cataract), increased pressure inside the eye (glaucoma) that can damage the optic nerve, vision problems such as nearsightedness (myopia), involuntary back-and-forth eye movements (nystagmus), or separation of the retina from the back of the eye (retinal detachment).\n\nSome individuals have coloboma as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When coloboma occurs by itself, it is described as nonsyndromic or isolated.\n\nColobomas involving the eyeball should be distinguished from gaps that occur in the eyelids. While these eyelid gaps are also called colobomas, they arise from abnormalities in different structures during early development.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1046">Feature record</a> | <a href="/medgen?term=%22Congenital%20ocular%20coloboma%22%5BClinical%20Features%5D%20OR%201046%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10033"><div><strong>Microphthalmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10033</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.">C0026010</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10033">Feature record</a> | <a href="/medgen?term=%22Microphthalmia%22%5BClinical%20Features%5D%20OR%2010033%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 limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_67394" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Postaxial polydactyly</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1046" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital ocular coloboma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10033" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microphthalmia</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_575082" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absent testis</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/38528322">Prevalence and prenatal diagnosis of congenital eye anomalies: A population-based study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maillet C,
|
||
Guilbaud L,
|
||
Monier I,
|
||
Khoshnood B,
|
||
Quoc EB,
|
||
Dugas A,
|
||
Lelong N,
|
||
Jouannic JM</span><br />
|
||
<span class="medgenPMjournal">BJOG</span>
|
||
2024 Sep;131(10):1385-1391.
|
||
Epub 2024 Mar 25
|
||
doi: 10.1111/1471-0528.17817.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38528322" target="_blank">38528322</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33728625">Prenatal Diagnosis of Congenital Cataract: Sonographic Features and Perinatal Outcome in 41 Cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Qin Y,
|
||
Zhong X,
|
||
Wen H,
|
||
Zeng Q,
|
||
Liao Y,
|
||
Luo D,
|
||
Liang M,
|
||
Tang Y,
|
||
Guo J,
|
||
Cao H,
|
||
Yang S,
|
||
Tian X,
|
||
Luo G,
|
||
Li S</span><br />
|
||
<span class="medgenPMjournal">Ultraschall Med</span>
|
||
2022 Dec;43(6):e125-e134.
|
||
Epub 2021 Mar 16
|
||
doi: 10.1055/a-1320-0799.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33728625" target="_blank">33728625</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32996714">Genotype-phenotype spectrum in isolated and syndromic nanophthalmos.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lang E,
|
||
Koller S,
|
||
Atac D,
|
||
Pfäffli OA,
|
||
Hanson JVM,
|
||
Feil S,
|
||
Bähr L,
|
||
Bahr A,
|
||
Kottke R,
|
||
Joset P,
|
||
Fasler K,
|
||
Barthelmes D,
|
||
Steindl K,
|
||
Konrad D,
|
||
Wille DA,
|
||
Berger W,
|
||
Gerth-Kahlert C</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol</span>
|
||
2021 Jun;99(4):e594-e607.
|
||
Epub 2020 Sep 30
|
||
doi: 10.1111/aos.14615.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32996714" target="_blank">32996714</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(isolated%20microphthalmia%204)%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 (6)</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/36595661">Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Albakri A,
|
||
Pisuchpen P,
|
||
Capasso JE,
|
||
Schneider A,
|
||
Kopinsky S,
|
||
Glaser T,
|
||
Chiang JP,
|
||
Yomai AA,
|
||
McNear D,
|
||
Levin AV</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2023 Apr;191(4):1007-1012.
|
||
Epub 2023 Jan 3
|
||
doi: 10.1002/ajmg.a.63108.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36595661" target="_blank">36595661</a><a href="/pmc/articles/PMC10262898" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35105264">Anophthalmia and microphthalmia in children: associated ocular, somatic and genetic morbidities and quality of life.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fahnehjelm C,
|
||
Dafgård Kopp E,
|
||
Wincent J,
|
||
Güven E,
|
||
Nilsson M,
|
||
Olsson M,
|
||
Teär Fahnehjelm K</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2022 Apr;43(2):172-183.
|
||
Epub 2022 Feb 2
|
||
doi: 10.1080/13816810.2021.1989600.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35105264" target="_blank">35105264</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28376192">Deciphering the Role of Oncogenic MITFE318K in Senescence Delay and Melanoma Progression.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bonet C,
|
||
Luciani F,
|
||
Ottavi JF,
|
||
Leclerc J,
|
||
Jouenne FM,
|
||
Boncompagni M,
|
||
Bille K,
|
||
Hofman V,
|
||
Bossis G,
|
||
Marco de Donatis G,
|
||
Strub T,
|
||
Cheli Y,
|
||
Ohanna M,
|
||
Luciano F,
|
||
Marchetti S,
|
||
Rocchi S,
|
||
Birling MC,
|
||
Avril MF,
|
||
Poulalhon N,
|
||
Luc T,
|
||
Hofman P,
|
||
Lacour JP,
|
||
Davidson I,
|
||
Bressac-de Paillerets B,
|
||
Ballotti R,
|
||
Marine JC,
|
||
Bertolotto C</span><br />
|
||
<span class="medgenPMjournal">J Natl Cancer Inst</span>
|
||
2017 Aug 1;109(8)
|
||
doi: 10.1093/jnci/djw340.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28376192" target="_blank">28376192</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11826187">Molecular diagnosis of clear cell sarcoma: detection of EWS-ATF1 and MITF-M transcripts and histopathological and ultrastructural analysis of 12 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Antonescu CR,
|
||
Tschernyavsky SJ,
|
||
Woodruff JM,
|
||
Jungbluth AA,
|
||
Brennan MF,
|
||
Ladanyi M</span><br />
|
||
<span class="medgenPMjournal">J Mol Diagn</span>
|
||
2002 Feb;4(1):44-52.
|
||
doi: 10.1016/S1525-1578(10)60679-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11826187" target="_blank">11826187</a><a href="/pmc/articles/PMC1906974" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8661044">Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schaefer L,
|
||
Ballabio A,
|
||
Zoghbi HY</span><br />
|
||
<span class="medgenPMjournal">Genomics</span>
|
||
1996 Jun 1;34(2):166-72.
|
||
doi: 10.1006/geno.1996.0261.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8661044" target="_blank">8661044</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Isolated%20microphthalmia%204%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 (27)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/40038803">Management of anophthalmia, microphthalmia and coloboma in the newborn, shared care between neonatologist and ophthalmologist: a literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Russo M,
|
||
Palmeri S,
|
||
Zucconi A,
|
||
Vagge A,
|
||
Arioni C</span><br />
|
||
<span class="medgenPMjournal">Ital J Pediatr</span>
|
||
2025 Mar 5;51(1):65.
|
||
doi: 10.1186/s13052-025-01882-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/40038803" target="_blank">40038803</a><a href="/pmc/articles/PMC11881466" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36595661">Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Albakri A,
|
||
Pisuchpen P,
|
||
Capasso JE,
|
||
Schneider A,
|
||
Kopinsky S,
|
||
Glaser T,
|
||
Chiang JP,
|
||
Yomai AA,
|
||
McNear D,
|
||
Levin AV</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2023 Apr;191(4):1007-1012.
|
||
Epub 2023 Jan 3
|
||
doi: 10.1002/ajmg.a.63108.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36595661" target="_blank">36595661</a><a href="/pmc/articles/PMC10262898" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35105264">Anophthalmia and microphthalmia in children: associated ocular, somatic and genetic morbidities and quality of life.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fahnehjelm C,
|
||
Dafgård Kopp E,
|
||
Wincent J,
|
||
Güven E,
|
||
Nilsson M,
|
||
Olsson M,
|
||
Teär Fahnehjelm K</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2022 Apr;43(2):172-183.
|
||
Epub 2022 Feb 2
|
||
doi: 10.1080/13816810.2021.1989600.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35105264" target="_blank">35105264</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32438134">Prenatal description of retinal coloboma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Egloff C,
|
||
Tassin M,
|
||
Bault JP,
|
||
Barjol A,
|
||
Collin A,
|
||
Simon I,
|
||
Sibiude J,
|
||
Mandelbrot L,
|
||
Picone O</span><br />
|
||
<span class="medgenPMjournal">J Gynecol Obstet Hum Reprod</span>
|
||
2020 Sep;49(7):101746.
|
||
Epub 2020 May 11
|
||
doi: 10.1016/j.jogoh.2020.101746.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32438134" target="_blank">32438134</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11826187">Molecular diagnosis of clear cell sarcoma: detection of EWS-ATF1 and MITF-M transcripts and histopathological and ultrastructural analysis of 12 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Antonescu CR,
|
||
Tschernyavsky SJ,
|
||
Woodruff JM,
|
||
Jungbluth AA,
|
||
Brennan MF,
|
||
Ladanyi M</span><br />
|
||
<span class="medgenPMjournal">J Mol Diagn</span>
|
||
2002 Feb;4(1):44-52.
|
||
doi: 10.1016/S1525-1578(10)60679-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11826187" target="_blank">11826187</a><a href="/pmc/articles/PMC1906974" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Isolated%20microphthalmia%204%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 (37)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36326734">Sesquiterpenoids from Seriphidium transiliense and Their Melanogenic Activity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu JF,
|
||
Turak A,
|
||
Zang D,
|
||
Zou GA,
|
||
Aisa HA</span><br />
|
||
<span class="medgenPMjournal">J Nat Prod</span>
|
||
2022 Nov 25;85(11):2570-2582.
|
||
Epub 2022 Nov 3
|
||
doi: 10.1021/acs.jnatprod.2c00527.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36326734" target="_blank">36326734</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33487077">A feasibility study of circulating melanoma cells in the perioperative context of hyperthermic isolated limb perfusion (HILP) in 20 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Michelakis D,
|
||
Lasithiotakis K,
|
||
Messaritakis I,
|
||
Ioannou C,
|
||
Perisynakis K,
|
||
Souglakos I,
|
||
Stamatiou D,
|
||
Chlouverakis G,
|
||
de Bree E,
|
||
Romanos I,
|
||
Zoras O</span><br />
|
||
<span class="medgenPMjournal">Int J Hyperthermia</span>
|
||
2021;38(1):70-78.
|
||
doi: 10.1080/02656736.2021.1874062.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33487077" target="_blank">33487077</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15971507">The epidemiology of anophthalmia and microphthalmia in Sweden.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Källén B,
|
||
Tornqvist K</span><br />
|
||
<span class="medgenPMjournal">Eur J Epidemiol</span>
|
||
2005;20(4):345-50.
|
||
doi: 10.1007/s10654-004-6880-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15971507" target="_blank">15971507</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Isolated%20microphthalmia%204%22%20AND%20Therapy%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32436650">Children and young adults with anophthalmia and microphthalmia: Diagnosis and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taha Najim R,
|
||
Topa A,
|
||
Jugård Y,
|
||
Casslén B,
|
||
Odersjö M,
|
||
Andersson Grönlund M</span><br />
|
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<span class="medgenPMjournal">Acta Ophthalmol</span>
|
||
2020 Dec;98(8):848-858.
|
||
Epub 2020 May 21
|
||
doi: 10.1111/aos.14427.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32436650" target="_blank">32436650</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29445918">Persistent craniopharyngeal canal, bilateral microphthalmia with colobomatous cysts, ectopic adenohypophysis with Rathke cleft cyst, and ectopic neurohypophysis: case report and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akyel NG,
|
||
Alımlı AG,
|
||
Demirkan TH,
|
||
Sivri M</span><br />
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<span class="medgenPMjournal">Childs Nerv Syst</span>
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2018 Jul;34(7):1407-1410.
|
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Epub 2018 Feb 14
|
||
doi: 10.1007/s00381-018-3747-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29445918" target="_blank">29445918</a></div>
|
||
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||
<div class="nl"><a target="_blank" href="/pubmed/22464758">Surgical and prosthetic treatment for microphthalmia syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wavreille O,
|
||
François Fiquet C,
|
||
Abdelwahab O,
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Laumonier E,
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||
Wolber A,
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Guerreschi P,
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Pellerin P</span><br />
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<span class="medgenPMjournal">Br J Oral Maxillofac Surg</span>
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||
2013 Mar;51(2):e17-21.
|
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Epub 2012 Mar 30
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doi: 10.1016/j.bjoms.2012.02.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22464758" target="_blank">22464758</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9417914">Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schaefer L,
|
||
Prakash S,
|
||
Zoghbi HY</span><br />
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<span class="medgenPMjournal">Genomics</span>
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1997 Dec 1;46(2):268-77.
|
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doi: 10.1006/geno.1997.5040.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9417914" target="_blank">9417914</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/179325">Optic nerve manifestations of human congenital cytomegalovirus infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hittner HM,
|
||
Desmond MM,
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||
Montgomery JR</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
1976 May;81(5):661-5.
|
||
doi: 10.1016/0002-9394(76)90134-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/179325" target="_blank">179325</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Isolated%20microphthalmia%204%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 (13)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37586836">Clinical, genetic and biochemical signatures of RBP4-related ocular malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Plaisancié J,
|
||
Martinovic J,
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||
Chesneau B,
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||
Whalen S,
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||
Rodriguez D,
|
||
Audebert-Bellanger S,
|
||
Marzin P,
|
||
Grotto S,
|
||
Perthus I,
|
||
Holt RJ,
|
||
Bax DA,
|
||
Ragge N,
|
||
Chassaing N</span><br />
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||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2023 Dec 21;61(1):84-92.
|
||
doi: 10.1136/jmg-2023-109331.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37586836" target="_blank">37586836</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36595661">Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Albakri A,
|
||
Pisuchpen P,
|
||
Capasso JE,
|
||
Schneider A,
|
||
Kopinsky S,
|
||
Glaser T,
|
||
Chiang JP,
|
||
Yomai AA,
|
||
McNear D,
|
||
Levin AV</span><br />
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||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2023 Apr;191(4):1007-1012.
|
||
Epub 2023 Jan 3
|
||
doi: 10.1002/ajmg.a.63108.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36595661" target="_blank">36595661</a><a href="/pmc/articles/PMC10262898" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35105264">Anophthalmia and microphthalmia in children: associated ocular, somatic and genetic morbidities and quality of life.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fahnehjelm C,
|
||
Dafgård Kopp E,
|
||
Wincent J,
|
||
Güven E,
|
||
Nilsson M,
|
||
Olsson M,
|
||
Teär Fahnehjelm K</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2022 Apr;43(2):172-183.
|
||
Epub 2022 Feb 2
|
||
doi: 10.1080/13816810.2021.1989600.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35105264" target="_blank">35105264</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9417914">Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schaefer L,
|
||
Prakash S,
|
||
Zoghbi HY</span><br />
|
||
<span class="medgenPMjournal">Genomics</span>
|
||
1997 Dec 1;46(2):268-77.
|
||
doi: 10.1006/geno.1997.5040.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9417914" target="_blank">9417914</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8661044">Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schaefer L,
|
||
Ballabio A,
|
||
Zoghbi HY</span><br />
|
||
<span class="medgenPMjournal">Genomics</span>
|
||
1996 Jun 1;34(2):166-72.
|
||
doi: 10.1006/geno.1996.0261.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8661044" target="_blank">8661044</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Isolated%20microphthalmia%204%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 (35)</a></div></div>
|
||
</div>
|
||
|
||
<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>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38350011">Prenatal and Postnatal Ocular Abnormalities Following Congenital Zika Virus Infections: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mahmoud A,
|
||
Pomar L,
|
||
Lambert V,
|
||
Picone O,
|
||
Hcini N</span><br />
|
||
<span class="medgenPMjournal">Ocul Immunol Inflamm</span>
|
||
2024 Nov;32(9):2217-2227.
|
||
Epub 2024 Feb 13
|
||
doi: 10.1080/09273948.2024.2314086.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38350011" target="_blank">38350011</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Isolated%20microphthalmia%204%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 (1)</a></div></div>
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||
</div>
|
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</div></div></div></div></div></div></div>
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|
||
|
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|
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</div>
|
||
<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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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><li><a href="/gtr/tests?term=C2751307%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C2751307%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (15)</a></li>
|
||
<li><a href="/gtr/tests?term=C2751307%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2751307%5bDISCUI%5d" target="_blank">See all (15)</a></total></li>
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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=613094" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Isolated%20microphthalmia%204" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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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=(isolated%20microphthalmia%204)%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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<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=601147" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=392255[geneid]" target="_blank">View GDF6 variations in ClinVar</a></li><li><a href="/nuccore/212549732" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=613094" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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|
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Microphthalmia%2C+isolated+4/8875" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/microphthalmia_isolated_4" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Isolated%20microphthalmia%204" target="_blank">MedlinePlus</a></li></ul></div>
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<li>
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<a href="/pubmed/clinical?term=Isolated%20microphthalmia%204" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
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</li>
|
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<li>
|
||
<a href="/pubmed?term=Isolated%20microphthalmia%204%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=414346" ref="log$=recordlinks">ClinVar</a>
|
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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</li>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=414346" ref="log$=recordlinks">Gene</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
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||
</li>
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||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C2751307[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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||
</li>
|
||
<li class="brieflinkpopper">
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||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C2751307[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=414346" ref="log$=recordlinks">MeSH</a>
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<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
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