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<!--
|
||
UID=376305
|
||
ConceptID=C1848192
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Absent facial hair</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376305</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.">C1848192</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002550">HP:0002550</a></td></tr>
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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>
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||
<div class="portlet_content ln">Absence of facial hair. [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>
|
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<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=C1848192[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=376305">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 unavailable" title="ClinVar">V</span></span><span class="TLline">Absent facial hair</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871273" ref="tree=MeSH" title="MedGen record for Abnormality of the integument">Abnormality of the integument</a></span><ul><li><span class="TLline"><a href="/medgen/869100" ref="tree=MeSH" title="MedGen record for Abnormal skin adnexa morphology">Abnormal skin adnexa morphology</a></span><ul><li><span class="TLline"><a href="/medgen/56381" ref="tree=MeSH" title="MedGen record for Abnormal hair morphology">Abnormal hair morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868983" ref="tree=MeSH" title="MedGen record for Abnormal hair quantity">Abnormal hair quantity</a></span><ul><li><span class="TLline"><a href="/medgen/108274" ref="tree=MeSH" title="MedGen record for Absent hair">Absent hair</a></span><ul><li><span class="matched_ds">Absent facial hair</span></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_21102"><div><strong>Androgen resistance syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21102</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.">C0039585</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Androgen insensitivity syndrome (AIS) is typically characterized by evidence of feminization (i.e., undermasculinization) of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype. AIS represents a spectrum of defects in androgen action and can be subdivided into three broad phenotypes: Complete androgen insensitivity syndrome (CAIS), with typical female external genitalia. Partial androgen insensitivity syndrome (PAIS) with predominantly female, predominantly male, or ambiguous external genitalia. Mild androgen insensitivity syndrome (MAIS) with typical male external genitalia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21102">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162911"><div><strong>Primrose syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162911</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.">C0796121</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primrose syndrome is characterized by macrocephaly, hypotonia, developmental delay, intellectual disability with expressive speech delay, behavioral issues, a recognizable facial phenotype, radiographic features, and altered glucose metabolism. Additional features seen in adults: sparse body hair, distal muscle wasting, and contractures. Characteristic craniofacial features include brachycephaly, high anterior hairline, deeply set eyes, ptosis, downslanted palpebral fissures, high palate with torus palatinus, broad jaw, and large ears with small or absent lobes. Radiographic features include calcification of the external ear cartilage, multiple wormian bones, platybasia, bathrocephaly, slender bones with exaggerated metaphyseal flaring, mild epiphyseal dysplasia, and spondylar dysplasia. Additional features include hearing impairment, ocular anomalies, cryptorchidism, and nonspecific findings on brain MRI.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162911">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462157"><div><strong>Ectodermal dysplasia-syndactyly syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462157</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.">C3150807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ectodermal dysplasia-syndactyly syndrome (EDSS) is characterized by sparse to absent scalp hair, eyebrows, and eyelashes, hypoplastic nails, tooth enamel hypoplasia, conical-shaped teeth, palmoplantar keratoderma, and partial cutaneous syndactyly (summary by Raza et al., 2015). Genetic Heterogeneity of Ectodermal Dysplasia-Syndactyly Syndrome Ectodermal dysplasia-syndactyly syndrome-2 (EDSS2; 613576) maps to chromosome 7p21-p14.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462157">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_21102" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Androgen resistance syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462157" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectodermal dysplasia-syndactyly syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162911" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primrose syndrome</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/27387253">Androgen excess: Investigations and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lizneva D,
|
||
Gavrilova-Jordan L,
|
||
Walker W,
|
||
Azziz R</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Obstet Gynaecol</span>
|
||
2016 Nov;37:98-118.
|
||
Epub 2016 May 19
|
||
doi: 10.1016/j.bpobgyn.2016.05.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27387253" target="_blank">27387253</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25169058">Phenotype and genotype in Nicolaides-Baraitser syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sousa SB,
|
||
Hennekam RC;
|
||
Nicolaides-Baraitser Syndrome International Consortium</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2014 Sep;166C(3):302-14.
|
||
Epub 2014 Aug 28
|
||
doi: 10.1002/ajmg.c.31409.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25169058" target="_blank">25169058</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20218823">Comprehensive clinical management of hirsutism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castelo-Branco C,
|
||
Cancelo MJ</span><br />
|
||
<span class="medgenPMjournal">Gynecol Endocrinol</span>
|
||
2010 Jul;26(7):484-93.
|
||
doi: 10.3109/09513591003686353.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20218823" target="_blank">20218823</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(absent%20facial%20hair)%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/25169058">Phenotype and genotype in Nicolaides-Baraitser syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sousa SB,
|
||
Hennekam RC;
|
||
Nicolaides-Baraitser Syndrome International Consortium</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2014 Sep;166C(3):302-14.
|
||
Epub 2014 Aug 28
|
||
doi: 10.1002/ajmg.c.31409.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25169058" target="_blank">25169058</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20218823">Comprehensive clinical management of hirsutism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castelo-Branco C,
|
||
Cancelo MJ</span><br />
|
||
<span class="medgenPMjournal">Gynecol Endocrinol</span>
|
||
2010 Jul;26(7):484-93.
|
||
doi: 10.3109/09513591003686353.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20218823" target="_blank">20218823</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20113479">Rothmund-Thomson syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Larizza L,
|
||
Roversi G,
|
||
Volpi L</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2010 Jan 29;5:2.
|
||
doi: 10.1186/1750-1172-5-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20113479" target="_blank">20113479</a><a href="/pmc/articles/PMC2826297" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18414261">Idiopathic hirsutism: excessive bodily and facial hair in women.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elghblawi E</span><br />
|
||
<span class="medgenPMjournal">Br J Nurs</span>
|
||
2008 Feb 14-27;17(3):192-7.
|
||
doi: 10.12968/bjon.2008.17.3.28410.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18414261" target="_blank">18414261</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/913905">Ablepheron macrostomia syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McCarthy GT,
|
||
West CM</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
1977 Oct;19(5):659-63.
|
||
doi: 10.1111/j.1469-8749.1977.tb07999.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/913905" target="_blank">913905</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Absent%20facial%20hair%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 (37)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27387253">Androgen excess: Investigations and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lizneva D,
|
||
Gavrilova-Jordan L,
|
||
Walker W,
|
||
Azziz R</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Obstet Gynaecol</span>
|
||
2016 Nov;37:98-118.
|
||
Epub 2016 May 19
|
||
doi: 10.1016/j.bpobgyn.2016.05.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27387253" target="_blank">27387253</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25169058">Phenotype and genotype in Nicolaides-Baraitser syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sousa SB,
|
||
Hennekam RC;
|
||
Nicolaides-Baraitser Syndrome International Consortium</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2014 Sep;166C(3):302-14.
|
||
Epub 2014 Aug 28
|
||
doi: 10.1002/ajmg.c.31409.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25169058" target="_blank">25169058</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20113479">Rothmund-Thomson syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Larizza L,
|
||
Roversi G,
|
||
Volpi L</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2010 Jan 29;5:2.
|
||
doi: 10.1186/1750-1172-5-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20113479" target="_blank">20113479</a><a href="/pmc/articles/PMC2826297" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11059371">Eye cosmetics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Donoghue MN</span><br />
|
||
<span class="medgenPMjournal">Dermatol Clin</span>
|
||
2000 Oct;18(4):633-9.
|
||
doi: 10.1016/s0733-8635(05)70214-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11059371" target="_blank">11059371</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/913905">Ablepheron macrostomia syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McCarthy GT,
|
||
West CM</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
1977 Oct;19(5):659-63.
|
||
doi: 10.1111/j.1469-8749.1977.tb07999.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/913905" target="_blank">913905</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Absent%20facial%20hair%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 (59)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27387253">Androgen excess: Investigations and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lizneva D,
|
||
Gavrilova-Jordan L,
|
||
Walker W,
|
||
Azziz R</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Obstet Gynaecol</span>
|
||
2016 Nov;37:98-118.
|
||
Epub 2016 May 19
|
||
doi: 10.1016/j.bpobgyn.2016.05.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27387253" target="_blank">27387253</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20218823">Comprehensive clinical management of hirsutism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castelo-Branco C,
|
||
Cancelo MJ</span><br />
|
||
<span class="medgenPMjournal">Gynecol Endocrinol</span>
|
||
2010 Jul;26(7):484-93.
|
||
doi: 10.3109/09513591003686353.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20218823" target="_blank">20218823</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18414261">Idiopathic hirsutism: excessive bodily and facial hair in women.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elghblawi E</span><br />
|
||
<span class="medgenPMjournal">Br J Nurs</span>
|
||
2008 Feb 14-27;17(3):192-7.
|
||
doi: 10.12968/bjon.2008.17.3.28410.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18414261" target="_blank">18414261</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11059371">Eye cosmetics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Donoghue MN</span><br />
|
||
<span class="medgenPMjournal">Dermatol Clin</span>
|
||
2000 Oct;18(4):633-9.
|
||
doi: 10.1016/s0733-8635(05)70214-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11059371" target="_blank">11059371</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8886352">Transaural linear vestibulo-ocular reflexes from a single utricle.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lempert T,
|
||
Gianna C,
|
||
Brookes G,
|
||
Bronstein AM,
|
||
Gresty MA</span><br />
|
||
<span class="medgenPMjournal">Brain Res Bull</span>
|
||
1996;40(5-6):311-3.
|
||
doi: 10.1016/0361-9230(96)00120-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8886352" target="_blank">8886352</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Absent%20facial%20hair%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 (24)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37697378">Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feng B,
|
||
Li X,
|
||
Zhang Q,
|
||
Wang Y,
|
||
Gu S,
|
||
Yao RE,
|
||
Li Z,
|
||
Gao S,
|
||
Chang G,
|
||
Li Q,
|
||
Li N,
|
||
Fu L,
|
||
Wang J,
|
||
Wang X</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2023 Sep 11;18(1):284.
|
||
doi: 10.1186/s13023-023-02878-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37697378" target="_blank">37697378</a><a href="/pmc/articles/PMC10496309" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31333218">Vici Syndrome with a Novel Mutation in EPG5.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moirangthem A,
|
||
Mandal K,
|
||
Ghosh A,
|
||
Phadke SR</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
2019 Jul 15;56(7):603-605.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31333218" target="_blank">31333218</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19606471">Nicolaides-Baraitser syndrome: Delineation of the phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sousa SB,
|
||
Abdul-Rahman OA,
|
||
Bottani A,
|
||
Cormier-Daire V,
|
||
Fryer A,
|
||
Gillessen-Kaesbach G,
|
||
Horn D,
|
||
Josifova D,
|
||
Kuechler A,
|
||
Lees M,
|
||
MacDermot K,
|
||
Magee A,
|
||
Morice-Picard F,
|
||
Rosser E,
|
||
Sarkar A,
|
||
Shannon N,
|
||
Stolte-Dijkstra I,
|
||
Verloes A,
|
||
Wakeling E,
|
||
Wilson L,
|
||
Hennekam RC</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2009 Aug;149A(8):1628-40.
|
||
doi: 10.1002/ajmg.a.32956.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19606471" target="_blank">19606471</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9122073">Unilateral localized failure of beard growth.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Núñez M,
|
||
Mirallles ES,
|
||
Arrazola JM,
|
||
Ledo A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
1996 Mar-Apr;13(2):143-5.
|
||
doi: 10.1111/j.1525-1470.1996.tb01422.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9122073" target="_blank">9122073</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/913905">Ablepheron macrostomia syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McCarthy GT,
|
||
West CM</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
1977 Oct;19(5):659-63.
|
||
doi: 10.1111/j.1469-8749.1977.tb07999.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/913905" target="_blank">913905</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Absent%20facial%20hair%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 (23)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37697378">Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feng B,
|
||
Li X,
|
||
Zhang Q,
|
||
Wang Y,
|
||
Gu S,
|
||
Yao RE,
|
||
Li Z,
|
||
Gao S,
|
||
Chang G,
|
||
Li Q,
|
||
Li N,
|
||
Fu L,
|
||
Wang J,
|
||
Wang X</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2023 Sep 11;18(1):284.
|
||
doi: 10.1186/s13023-023-02878-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37697378" target="_blank">37697378</a><a href="/pmc/articles/PMC10496309" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35443324">Different Cases of Short Stature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sathyanarayanan,
|
||
Ramkumar,
|
||
Dinesh S</span><br />
|
||
<span class="medgenPMjournal">J Assoc Physicians India</span>
|
||
2022 Apr;70(4):11-12.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35443324" target="_blank">35443324</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27387253">Androgen excess: Investigations and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lizneva D,
|
||
Gavrilova-Jordan L,
|
||
Walker W,
|
||
Azziz R</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Obstet Gynaecol</span>
|
||
2016 Nov;37:98-118.
|
||
Epub 2016 May 19
|
||
doi: 10.1016/j.bpobgyn.2016.05.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27387253" target="_blank">27387253</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19804590">Human eyelash characterization.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thibaut S,
|
||
De Becker E,
|
||
Caisey L,
|
||
Baras D,
|
||
Karatas S,
|
||
Jammayrac O,
|
||
Pisella PJ,
|
||
Bernard BA</span><br />
|
||
<span class="medgenPMjournal">Br J Dermatol</span>
|
||
2010 Feb 1;162(2):304-10.
|
||
Epub 2009 Sep 1
|
||
doi: 10.1111/j.1365-2133.2009.09487.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19804590" target="_blank">19804590</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6876115">A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Woodhouse NJ,
|
||
Sakati NA</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1983 Jun;20(3):216-9.
|
||
doi: 10.1136/jmg.20.3.216.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6876115" target="_blank">6876115</a><a href="/pmc/articles/PMC1049050" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Absent%20facial%20hair%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 (37)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1848192%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1848192%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1848192%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
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