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<meta name="keywords" content="C4021822, abnormal female external genitalia, abnormal female external genitalia morphology, abnormality of female external genitalia, anatomical abnormality, 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 structural abnormality of the female external genitalia." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=867445
|
||
ConceptID=C4021822
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal female external genitalia morphology</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867445</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:">C4021822</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Abnormal female external genitalia; Abnormality of female external genitalia</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000055">HP:0000055</a></td></tr>
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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 structural abnormality of the female external genitalia. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_118">
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<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></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=C4021822[DISCUI]&test_type=Clinical" ref="ncbi_uid=867445">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=867445" ref="ncbi_uid=867445">V</a></span></span><span class="TLline">Abnormal female external genitalia morphology</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/52948" ref="tree=MeSH" title="MedGen record for Abnormality of the genitourinary system">Abnormality of the genitourinary system</a></span><ul><li><span class="TLline"><a href="/medgen/155422" ref="tree=MeSH" title="MedGen record for Abnormality of the genital system">Abnormality of the genital system</a></span><ul><li><span class="TLline"><a href="/medgen/866746" ref="tree=MeSH" title="MedGen record for Abnormal reproductive system morphology">Abnormal reproductive system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/869393" ref="tree=MeSH" title="MedGen record for Abnormality of the female genitalia">Abnormality of the female genitalia</a></span><ul><li><span class="matched_ds">Abnormal female external genitalia morphology</span><ul><li><span class="TLline"><a href="/medgen/871395" ref="tree=MeSH" title="MedGen record for Abnormal clitoris morphology">Abnormal clitoris morphology</a></span><ul><li><span class="TLline"><a href="/medgen/898984" ref="tree=MeSH" title="MedGen record for Abnormal size of the clitoris">Abnormal size of the clitoris</a></span><ul><li><span class="TLline"><a href="/medgen/908763" ref="tree=MeSH" title="MedGen record for Decreased size of the clitoris">Decreased size of the clitoris</a></span></li><li><span class="TLline"><a href="/medgen/907466" ref="tree=MeSH" title="MedGen record for Increased size of the clitoris">Increased size of the clitoris</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/895779" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the clitoris">Aplasia/Hypoplasia of the clitoris</a></span><ul><li><span class="TLline"><a href="/medgen/336198" ref="tree=MeSH" title="MedGen record for Clitoral hypoplasia">Clitoral hypoplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/234652" ref="tree=MeSH" title="MedGen record for Bifid clitoris">Bifid clitoris</a></span></li><li><span class="TLline"><a href="/medgen/927584" ref="tree=MeSH" title="MedGen record for Duplicated clitoris ">Duplicated clitoris </a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871394" ref="tree=MeSH" title="MedGen record for Abnormal labia morphology">Abnormal labia morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868301" ref="tree=MeSH" title="MedGen record for Abnormal labia majora morphology">Abnormal labia majora morphology</a></span><ul><li><span class="TLline"><a href="/medgen/341488" ref="tree=MeSH" title="MedGen record for Absence of labia majora">Absence of labia majora</a></span></li><li><span class="TLline"><a href="/medgen/1054093" ref="tree=MeSH" title="MedGen record for Bartholin cyst">Bartholin cyst</a></span></li><li><span class="TLline"><a href="/medgen/927583" ref="tree=MeSH" title="MedGen record for Exaggerated rugosity of the labia majora">Exaggerated rugosity of the labia majora</a></span></li><li><span class="TLline"><a href="/medgen/1383259" ref="tree=MeSH" title="MedGen record for Fused labia majora">Fused labia majora</a></span></li><li><span class="TLline"><a href="/medgen/866713" ref="tree=MeSH" title="MedGen record for Hyperplastic labia majora">Hyperplastic labia majora</a></span></li><li><span class="TLline"><a href="/medgen/107566" ref="tree=MeSH" title="MedGen record for Hypoplastic labia majora">Hypoplastic labia majora</a></span></li><li><span class="TLline"><a href="/medgen/539906" ref="tree=MeSH" title="MedGen record for Labial adhesion">Labial adhesion</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868302" ref="tree=MeSH" title="MedGen record for Abnormal labia minora morphology">Abnormal labia minora morphology</a></span><ul><li><span class="TLline"><a href="/medgen/340305" ref="tree=MeSH" title="MedGen record for Enlarged labia minora">Enlarged labia minora</a></span></li><li><span class="TLline"><a href="/medgen/332475" ref="tree=MeSH" title="MedGen record for Fused labia minora">Fused labia minora</a></span></li><li><span class="TLline"><a href="/medgen/376558" ref="tree=MeSH" title="MedGen record for Hypoplastic labia minora">Hypoplastic labia minora</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/96054" ref="tree=MeSH" title="MedGen record for Labial hypertrophy">Labial hypertrophy</a></span><ul><li><span class="TLline"><a href="/medgen/322651" ref="tree=MeSH" title="MedGen record for Labial pseudohypertrophy">Labial pseudohypertrophy</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/65964" ref="tree=MeSH" title="MedGen record for Female pseudohermaphroditism">Female pseudohermaphroditism</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_412662"><div><strong>46,XY sex reversal 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412662</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.">C2748896</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sex reversal in an individual with 46,XY karyotype caused by point mutations or deletions in the SRY gene, encoding sex-determining region Y protein.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/412662">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_414349"><div><strong>46,XY sex reversal 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414349</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.">C2751317</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/414349">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1778124"><div><strong>WHIM syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1778124</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.">C5542296</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">WHIM syndrome-1 (WHIMS1) is an autosomal dominant immunologic disorder characterized by neutropenia, hypogammaglobulinemia, and warts due to human papillomavirus (HPV) infection. Despite the peripheral neutropenia, bone marrow aspirates from affected individuals contain abundant mature myeloid cells, a condition termed myelokathexis. The susceptibility to HPV is disproportionate compared with other immunodeficiency conditions (summary by Hernandez et al., 2003). Heusinkveld et al. (2019) provided a detailed review of the clinical features, proposed pathogenesis, and possible therapeutic treatments of WHIM syndrome. There is significant phenotypic variation among patients, such that some individuals may have an 'incomplete' form of the disorder in which one or more of the classic tetrad features are not present. In general, the WHIMS phenotype comprises a spectrum of manifestations with variable expressivity. The pathogenesis of WHIMS1 is postulated to result from impaired CXCL12 (600835)-induced internalization of CXCR4, resulting in prolonged receptor presence at the cell surface that likely contributes to amplification of signaling with a gain-of-function effect. Genetic Heterogeneity of WHIM Syndrome See also WHIMS2 (619407), caused by mutation in the CXCR2 gene (146928) on chromosome 2q35.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1778124">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1797978"><div><strong>Mayer Rokitansky Kuster Hauser syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1797978</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.">C5566555</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is characterized by uterovaginal atresia in an otherwise phenotypically normal female with a normal 46,XX karyotype. Anomalies of the genital tract range from upper vaginal atresia to total mullerian agenesis with urinary tract abnormalities. It has an incidence of approximately 1 in 5,000 newborn girls (Cheroki et al., 2006). The abnormality of sexual development in MRKH syndrome is the same as that in the MURCS association (601076), in which cervicothoracic somite anomalies, unilateral renal agenesis, and conductive deafness are also seen. Mullerian aplasia and hyperandrogenism (158330) is caused by mutation in the WNT4 gene (603490). Familial cases of unilateral or bilateral renal agenesis in combination with mullerian anomalies have also been reported (see urogenital adysplasia, 191830).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1797978">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_412662" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">46,XY sex reversal 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414349" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">46,XY sex reversal 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1797978" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mayer Rokitansky Kuster Hauser syndrome type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1778124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">WHIM syndrome 1</a></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/37017373">Diagnosis and treatment of 46 patients with oblique vaginal septum syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Y,
|
||
Liu Q</span><br />
|
||
<span class="medgenPMjournal">J Obstet Gynaecol</span>
|
||
2022 Nov;42(8):3731-3736.
|
||
doi: 10.1080/01443615.2022.2158313.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37017373" target="_blank">37017373</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35220478">Clinical spectrum of female genital malformations in prenatal diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mallmann MR,
|
||
Gembruch U</span><br />
|
||
<span class="medgenPMjournal">Arch Gynecol Obstet</span>
|
||
2022 Dec;306(6):1847-1862.
|
||
Epub 2022 Feb 27
|
||
doi: 10.1007/s00404-022-06441-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35220478" target="_blank">35220478</a><a href="/pmc/articles/PMC9633498" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26411952">Management of Vaginal Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shrivastava SB,
|
||
Agrawal G,
|
||
Mittal M,
|
||
Mishra P</span><br />
|
||
<span class="medgenPMjournal">Rev Recent Clin Trials</span>
|
||
2015;10(4):289-97.
|
||
doi: 10.2174/1574887110666150923112958.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26411952" target="_blank">26411952</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20female%20external%20genitalia%20morphology)%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 (41)</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/38699388">Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Herlin MK</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2024;15:1368990.
|
||
Epub 2024 Apr 18
|
||
doi: 10.3389/fendo.2024.1368990.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38699388" target="_blank">38699388</a><a href="/pmc/articles/PMC11063329" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26411952">Management of Vaginal Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shrivastava SB,
|
||
Agrawal G,
|
||
Mittal M,
|
||
Mishra P</span><br />
|
||
<span class="medgenPMjournal">Rev Recent Clin Trials</span>
|
||
2015;10(4):289-97.
|
||
doi: 10.2174/1574887110666150923112958.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26411952" target="_blank">26411952</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25438707">Non-obstructive müllerian anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dietrich JE,
|
||
Millar DM,
|
||
Quint EH</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Adolesc Gynecol</span>
|
||
2014 Dec;27(6):386-95.
|
||
Epub 2014 Jul 17
|
||
doi: 10.1016/j.jpag.2014.07.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25438707" target="_blank">25438707</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22245297">Müllerian remnant malignancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Phalen A,
|
||
Akhavan A,
|
||
Hall SJ</span><br />
|
||
<span class="medgenPMjournal">Urology</span>
|
||
2012 Mar;79(3):e38-9.
|
||
Epub 2012 Jan 13
|
||
doi: 10.1016/j.urology.2011.11.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22245297" target="_blank">22245297</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16959034">CHARGE syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blake KD,
|
||
Prasad C</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2006 Sep 7;1:34.
|
||
doi: 10.1186/1750-1172-1-34.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16959034" target="_blank">16959034</a><a href="/pmc/articles/PMC1586184" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20female%20external%20genitalia%20morphology%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 (302)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31665438">The External Genitalia Score (EGS): A European Multicenter Validation Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van der Straaten S,
|
||
Springer A,
|
||
Zecic A,
|
||
Hebenstreit D,
|
||
Tonnhofer U,
|
||
Gawlik A,
|
||
Baumert M,
|
||
Szeliga K,
|
||
Debulpaep S,
|
||
Desloovere A,
|
||
Tack L,
|
||
Smets K,
|
||
Wasniewska M,
|
||
Corica D,
|
||
Calafiore M,
|
||
Ljubicic ML,
|
||
Busch AS,
|
||
Juul A,
|
||
Nordenström A,
|
||
Sigurdsson J,
|
||
Flück CE,
|
||
Haamberg T,
|
||
Graf S,
|
||
Hannema SE,
|
||
Wolffenbuttel KP,
|
||
Hiort O,
|
||
Ahmed SF,
|
||
Cools M</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2020 Mar 1;105(3)
|
||
doi: 10.1210/clinem/dgz142.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31665438" target="_blank">31665438</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25155737">Abnormalities of the external genitalia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baldinger L,
|
||
Mudegowdar A,
|
||
Shukla AR</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2014 Sep;41(3):709-24.
|
||
Epub 2014 Jul 23
|
||
doi: 10.1016/j.clp.2014.05.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25155737" target="_blank">25155737</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19608442">Hypertrophic labia minora.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reddy J,
|
||
Laufer MR</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Adolesc Gynecol</span>
|
||
2010 Feb;23(1):3-6.
|
||
Epub 2009 Jul 15
|
||
doi: 10.1016/j.jpag.2009.01.071.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19608442" target="_blank">19608442</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10693181">Vulvar disorders in adolescents.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schroeder B</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol Clin North Am</span>
|
||
2000 Mar;27(1):35-48.
|
||
doi: 10.1016/s0889-8545(00)80005-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10693181" target="_blank">10693181</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/133629">Uterovaginal agenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williams EA</span><br />
|
||
<span class="medgenPMjournal">Ann R Coll Surg Engl</span>
|
||
1976 Jul;58(4):266-77.
|
||
<span class="bold">PMID: </span><a href="/pubmed/133629" target="_blank">133629</a><a href="/pmc/articles/PMC2493712" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20female%20external%20genitalia%20morphology%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 (526)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33560797">Epidermolytic hyperkeratosis of the vulva.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dai C,
|
||
Sokumbi O,
|
||
Bruce A,
|
||
Thielen JM,
|
||
Sluzevich JC</span><br />
|
||
<span class="medgenPMjournal">Dermatol Online J</span>
|
||
2021 Jan 15;27(1)
|
||
<span class="bold">PMID: </span><a href="/pubmed/33560797" target="_blank">33560797</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20541150">46,XY DSD due to impaired androgen production.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mendonca BB,
|
||
Costa EM,
|
||
Belgorosky A,
|
||
Rivarola MA,
|
||
Domenice S</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
|
||
2010 Apr;24(2):243-62.
|
||
doi: 10.1016/j.beem.2009.11.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20541150" target="_blank">20541150</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16959034">CHARGE syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blake KD,
|
||
Prasad C</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2006 Sep 7;1:34.
|
||
doi: 10.1186/1750-1172-1-34.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16959034" target="_blank">16959034</a><a href="/pmc/articles/PMC1586184" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1292988">Syndromes and genital dysmorphology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aarskog D</span><br />
|
||
<span class="medgenPMjournal">Horm Res</span>
|
||
1992;38 Suppl 2:82-5.
|
||
doi: 10.1159/000182606.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1292988" target="_blank">1292988</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1951579">Pudendal neuralgia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turner ML,
|
||
Marinoff SC</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
1991 Oct;165(4 Pt 2):1233-6.
|
||
doi: 10.1016/s0002-9378(12)90733-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1951579" target="_blank">1951579</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20female%20external%20genitalia%20morphology%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 (124)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36828360">Classification of Vulvar Squamous Cell Carcinoma and Precursor Lesions by p16 and p53 Immunohistochemistry: Considerations, Caveats, and an Algorithmic Approach.</a></div>
|
||
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<div class="portlet_content ln"><span class="medgenPMauthor">Miranda ML,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20female%20external%20genitalia%20morphology%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 (158)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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2020 Mar 1;105(3)
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<span class="bold">PMID: </span><a href="/pubmed/31665438" target="_blank">31665438</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27094100">Annular hymenotomy for imperforate hymen.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cetin C,
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Soysal C,
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<span class="bold">PMID: </span><a href="/pubmed/27094100" target="_blank">27094100</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25105706">Perspectives in Pediatric Pathology, Chapter 6. Male Undermasculinization.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nistal M,
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Paniagua R,
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González-Peramato P,
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Reyes-Múgica M</span><br />
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<span class="medgenPMjournal">Pediatr Dev Pathol</span>
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2015 Jul-Aug;18(4):279-96.
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Epub 2014 Aug 8
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doi: 10.2350/14-04-1465-PB.1.
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<span class="bold">PMID: </span><a href="/pubmed/25105706" target="_blank">25105706</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/21197679">Androgen-dependent measurements of female genitalia in women with complete androgen insensitivity syndrome.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/21197679" target="_blank">21197679</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/16847205">PELVIS Syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Girard C,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20female%20external%20genitalia%20morphology%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 (184)</a></div></div>
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|
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|
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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="nl"><a target="_blank" href="/pubmed/39840303">The Labial Adhesion in Postmenopausal Women: A Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mahmoudnejad N,
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2024 Dec;49(12):752-760.
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Epub 2024 Dec 1
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doi: 10.30476/ijms.2024.101283.3395.
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||
<span class="bold">PMID: </span><a href="/pubmed/39840303" target="_blank">39840303</a><a href="/pmc/articles/PMC11743437" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26537921">The Thessaloniki ESHRE/ESGE consensus on diagnosis of female genital anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grimbizis GF,
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Di Spiezio Sardo A,
|
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Saravelos SH,
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Gordts S,
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Exacoustos C,
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Van Schoubroeck D,
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Bermejo C,
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Amso NN,
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Nargund G,
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Timmerman D,
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Athanasiadis A,
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Brucker S,
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De Angelis C,
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Gergolet M,
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Li TC,
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Tanos V,
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Tarlatzis B,
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Farquharson R,
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<span class="medgenPMjournal">Hum Reprod</span>
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||
2016 Jan;31(1):2-7.
|
||
Epub 2015 Nov 4
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||
doi: 10.1093/humrep/dev264.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26537921" target="_blank">26537921</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25438707">Non-obstructive müllerian anomalies.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Dietrich JE,
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2014 Dec;27(6):386-95.
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||
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24596022">Surgical interventions for high-grade vulval intraepithelial neoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaushik S,
|
||
Pepas L,
|
||
Nordin A,
|
||
Bryant A,
|
||
Dickinson HO</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
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2014 Mar 4;2014(3):CD007928.
|
||
doi: 10.1002/14651858.CD007928.pub3.
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<span class="bold">PMID: </span><a href="/pubmed/24596022" target="_blank">24596022</a><a href="/pmc/articles/PMC6457760" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21249698">Surgical interventions for high grade vulval intraepithelial neoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaushik S,
|
||
Pepas L,
|
||
Nordin A,
|
||
Bryant A,
|
||
Dickinson HO</span><br />
|
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
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2011 Jan 19;(1):CD007928.
|
||
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<span class="bold">PMID: </span><a href="/pubmed/21249698" target="_blank">21249698</a><a href="/pmc/articles/PMC4170992" 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=%22Abnormal%20female%20external%20genitalia%20morphology%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 (7)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4021822%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (18)</a></li>
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