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<meta name="keywords" content="C0406735, disease or syndrome, dysplasia of nails with hypodontia, ectd3, ectodermal dysplasia 3, tooth/nail type, ectodermal dysplasia 3, witkop type, hnd, hypodontia - dysplasia of nails, hypodontia and nail dysplasia, hypodontia with nail dysplasia, hypodontia-dysplasia of nails syndrome, hypodontia-nail dysgenesis syndrome, hypodontia-nail dysplasia, hypoplastic enamel-onycholysis-hypohidrosis syndrome, msx1, nail dysplasia with hypodontia, tns, tooth and nail syndrome, tooth-and-nail syndrome, witkop syndrome, witkop's syndrome, witkop-brearley-gentry syndrome, 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="Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Witkop syndrome is a rare autosomal dominant ectodermal dysplasia involving the teeth and nails. Although a few reported cases have sparse or fine hair, almost all affected individuals have normal hair, sweat glands, and ability to tolerate heat. Affected individuals have a variable number and variable types of congenitally missing permanent and/or primary teeth, which frequently results in lip eversion due to loss of occlusion in the vertical dimension. Nails are generally thin, slow-growing, brittle, and spoon-shaped (koilonychia). Toenails are usually more severely affected than fingernails. The nail defects are alleviated with age and may not be easily detectable during adulthood (summary by Jumlongras et al., 2001)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=140809
|
||
ConceptID=C0406735
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hypoplastic enamel-onycholysis-hypohidrosis syndrome<span class="h1sub">(TNS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140809</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.">C0406735</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Dysplasia of nails with hypodontia; ECTODERMAL DYSPLASIA 3, TOOTH/NAIL TYPE; ECTODERMAL DYSPLASIA 3, WITKOP TYPE; NAIL DYSPLASIA WITH HYPODONTIA; TNS; Tooth-and-Nail Syndrome; WITKOP SYNDROME</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hypoplastic enamel-onycholysis-hypohidrosis syndrome (400036004); Witkop-Brearley-Gentry syndrome (400036004)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></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="MSX1 - ID: 4487 - NCBI Gene" href="/gene/4487" class="medgenPMinfo">MSX1</a> (4p16.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008582" target="_blank">MONDO:0008582</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/189500" target="_blank">189500</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2228">ORPHA2228</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
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<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Witkop syndrome is a rare autosomal dominant ectodermal dysplasia involving the teeth and nails. Although a few reported cases have sparse or fine hair, almost all affected individuals have normal hair, sweat glands, and ability to tolerate heat. Affected individuals have a variable number and variable types of congenitally missing permanent and/or primary teeth, which frequently results in lip eversion due to loss of occlusion in the vertical dimension. Nails are generally thin, slow-growing, brittle, and spoon-shaped (koilonychia). Toenails are usually more severely affected than fingernails. The nail defects are alleviated with age and may not be easily detectable during adulthood (summary by Jumlongras et al., 2001). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</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>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_224851"><div><strong>Agenesis of permanent teeth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>224851</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.">C1290511</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/224851">Feature record</a> | <a href="/medgen?term=%22Agenesis%20of%20permanent%20teeth%22%5BClinical%20Features%5D%20OR%20224851%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343501"><div><strong>Microdontia of primary teeth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343501</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.">C1856203</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased size of the primary teeth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343501">Feature record</a> | <a href="/medgen?term=%22Microdontia%20of%20primary%20teeth%22%5BClinical%20Features%5D%20OR%20343501%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57463"><div><strong>Nail pits</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57463</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.">C0150993</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Small (typically about 1 mm or less in size) depressions on the dorsal nail surface.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57463">Feature record</a> | <a href="/medgen?term=%22Nail%20pits%22%5BClinical%20Features%5D%20OR%2057463%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66369"><div><strong>Concave nail</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66369</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.">C0221261</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The natural longitudinal (posterodistal) convex arch is not present or is inverted.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66369">Feature record</a> | <a href="/medgen?term=%22Concave%20nail%22%5BClinical%20Features%5D%20OR%2066369%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892310"><div><strong>Abnormal sweat gland morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892310</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.">C0262643</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any structural abnormality of the sweat gland.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892310">Feature record</a> | <a href="/medgen?term=%22Abnormal%20sweat%20gland%20morphology%22%5BClinical%20Features%5D%20OR%20892310%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140853"><div><strong>Ridged nail</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140853</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.">C0423820</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Longitudinal, linear prominences in the nail plate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140853">Feature record</a> | <a href="/medgen?term=%22Ridged%20nail%22%5BClinical%20Features%5D%20OR%20140853%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98401"><div><strong>Fine hair</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98401</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.">C0423867</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hair that is fine or thin to the touch.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98401">Feature record</a> | <a href="/medgen?term=%22Fine%20hair%22%5BClinical%20Features%5D%20OR%2098401%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868713"><div><strong>Hypoplastic fifth toenail</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868713</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.">C4023116</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdeveloped nails of the fifth toes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868713">Feature record</a> | <a href="/medgen?term=%22Hypoplastic%20fifth%20toenail%22%5BClinical%20Features%5D%20OR%20868713%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1790211"><div><strong>Sparse hair</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1790211</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.">C5551005</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced density of hairs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1790211">Feature record</a> | <a href="/medgen?term=%22Sparse%20hair%22%5BClinical%20Features%5D%20OR%201790211%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 head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_224851" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Agenesis of permanent teeth</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343501" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microdontia of primary teeth</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892310" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal sweat gland morphology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66369" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Concave nail</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98401" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fine hair</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplastic fifth toenail</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57463" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nail pits</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140853" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ridged nail</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1790211" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sparse hair</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></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=C0406735[DISCUI]&test_type=Clinical" ref="ncbi_uid=140809">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=140809" target="_blank" href="/omim/142983">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=140809" ref="ncbi_uid=140809">V</a></span></span><span class="TLline">Hypoplastic enamel-onycholysis-hypohidrosis syndrome</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/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><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/11449" ref="tree=MeSH" title="MedGen record for Congenital anomaly of skin">Congenital anomaly of skin</a></span><ul><li><span class="TLline"><a href="/medgen/8544" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia">Ectodermal dysplasia</a></span><ul><li><span class="matched_ds">Hypoplastic enamel-onycholysis-hypohidrosis syndrome</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_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/38310173">Aplastic anemia: history and recent developments in diagnosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Onishi Y</span><br />
|
||
<span class="medgenPMjournal">Int J Hematol</span>
|
||
2024 Mar;119(3):217-219.
|
||
Epub 2024 Feb 4
|
||
doi: 10.1007/s12185-024-03715-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38310173" target="_blank">38310173</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38247114">Guidelines for the diagnosis and management of adult aplastic anaemia: A British Society for Haematology Guideline.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kulasekararaj A,
|
||
Cavenagh J,
|
||
Dokal I,
|
||
Foukaneli T,
|
||
Gandhi S,
|
||
Garg M,
|
||
Griffin M,
|
||
Hillmen P,
|
||
Ireland R,
|
||
Killick S,
|
||
Mansour S,
|
||
Mufti G,
|
||
Potter V,
|
||
Snowden J,
|
||
Stanworth S,
|
||
Zuha R,
|
||
Marsh J;
|
||
BSH Committee</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2024 Mar;204(3):784-804.
|
||
Epub 2024 Jan 21
|
||
doi: 10.1111/bjh.19236.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38247114" target="_blank">38247114</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37874917">Clinical decision-making and treatment of myelodysplastic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hellström-Lindberg ES,
|
||
Kröger N</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2023 Dec 28;142(26):2268-2281.
|
||
doi: 10.1182/blood.2023020079.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37874917" target="_blank">37874917</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hypoplastic%20enamel-onycholysis-hypohidrosis%20syndrome)%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 (236)</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/36053102">High-Risk Anatomic Subsets in Hypoplastic Left Heart Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Geoffrion TR,
|
||
Fuller SM</span><br />
|
||
<span class="medgenPMjournal">World J Pediatr Congenit Heart Surg</span>
|
||
2022 Sep;13(5):593-599.
|
||
doi: 10.1177/21501351221111390.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36053102" target="_blank">36053102</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36053094">Hypoplastic Left Heart Syndrome Palliation: Technical Aspects and Common Pitfalls of the Hybrid Approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akintürk H,
|
||
Yörüker U,
|
||
Schranz D</span><br />
|
||
<span class="medgenPMjournal">World J Pediatr Congenit Heart Surg</span>
|
||
2022 Sep;13(5):588-592.
|
||
doi: 10.1177/21501351221099935.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36053094" target="_blank">36053094</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30670443">MDS overlap disorders and diagnostic boundaries.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tanaka TN,
|
||
Bejar R</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2019 Mar 7;133(10):1086-1095.
|
||
Epub 2019 Jan 22
|
||
doi: 10.1182/blood-2018-10-844670.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30670443" target="_blank">30670443</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27701379">Hypoplastic left heart syndrome: from comfort care to long-term survival.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yabrodi M,
|
||
Mastropietro CW</span><br />
|
||
<span class="medgenPMjournal">Pediatr Res</span>
|
||
2017 Jan;81(1-2):142-149.
|
||
Epub 2016 Oct 4
|
||
doi: 10.1038/pr.2016.194.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27701379" target="_blank">27701379</a><a href="/pmc/articles/PMC5313512" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17408482">Amelogenesis imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crawford PJ,
|
||
Aldred M,
|
||
Bloch-Zupan A</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2007 Apr 4;2:17.
|
||
doi: 10.1186/1750-1172-2-17.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17408482" target="_blank">17408482</a><a href="/pmc/articles/PMC1853073" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplastic%20enamel-onycholysis-hypohidrosis%20syndrome%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 (2813)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37455656">Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sinibaldi L,
|
||
Garone G,
|
||
Mandarino A,
|
||
Iarossi G,
|
||
Chioma L,
|
||
Dentici ML,
|
||
Merla G,
|
||
Agolini E,
|
||
Micalizzi A,
|
||
Mancini C,
|
||
Niceta M,
|
||
Macchiaiolo M,
|
||
Diodato D,
|
||
Onesimo R,
|
||
Blandino R,
|
||
Delogu AB,
|
||
De Rosa G,
|
||
Trevisan V,
|
||
Iademarco M,
|
||
Zampino G,
|
||
Tartaglia M,
|
||
Novelli A,
|
||
Bartuli A,
|
||
Digilio MC,
|
||
Calcagni G</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2023 Nov;104(5):528-541.
|
||
Epub 2023 Jul 17
|
||
doi: 10.1111/cge.14404.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37455656" target="_blank">37455656</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30670443">MDS overlap disorders and diagnostic boundaries.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tanaka TN,
|
||
Bejar R</span><br />
|
||
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<span class="bold">PMID: </span><a href="/pubmed/37459407" target="_blank">37459407</a><a href="/pmc/articles/PMC10361626" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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Riyaz N,
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Jayakrishnan MP,
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Mohamed Shiras PT,
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Ajith Kumar VT,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplastic%20enamel-onycholysis-hypohidrosis%20syndrome%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 (1861)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/17408482">Amelogenesis imperfecta.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Crawford PJ,
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Aldred M,
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Bloch-Zupan A</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplastic%20enamel-onycholysis-hypohidrosis%20syndrome%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 (1388)</a></div></div>
|
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</div>
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|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
|
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<div class="nl"><a target="_blank" href="/pubmed/37533308">Total temporomandibular joint reconstruction prosthesis in hemifacial microsomia: A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Arif H,
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Ashraf R,
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Khan F,
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Khattak YR,
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Nisar H,
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Ahmad I</span><br />
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<span class="medgenPMjournal">Orthod Craniofac Res</span>
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2024 Feb;27(1):15-26.
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Epub 2023 Aug 2
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doi: 10.1111/ocr.12695.
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<span class="bold">PMID: </span><a href="/pubmed/37533308" target="_blank">37533308</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34561266">Cognitive and Executive Function in Congenital Heart Disease: A Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feldmann M,
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Bataillard C,
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Ehrler M,
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Ullrich C,
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Knirsch W,
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Gosteli-Peter MA,
|
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Held U,
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Latal B</span><br />
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<span class="medgenPMjournal">Pediatrics</span>
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2021 Oct;148(4)
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Epub 2021 Sep 24
|
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doi: 10.1542/peds.2021-050875.
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||
<span class="bold">PMID: </span><a href="/pubmed/34561266" target="_blank">34561266</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34420886">Arterial Stiffness in Congenital Heart Disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sandhu K,
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Pepe S,
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Smolich JJ,
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Cheung MMH,
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Mynard JP</span><br />
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<span class="medgenPMjournal">Heart Lung Circ</span>
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2021 Nov;30(11):1602-1612.
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Epub 2021 Aug 20
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doi: 10.1016/j.hlc.2021.07.018.
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<span class="bold">PMID: </span><a href="/pubmed/34420886" target="_blank">34420886</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31069392">Cognitive Function in Pediatric Hypoplastic Left Heart Syndrome: Systematic Review and Meta-Analysis.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Siciliano RE,
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Prussien KV,
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Lee CA,
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Patel NJ,
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Murphy LK,
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Compas BE,
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Jordan LC</span><br />
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<span class="medgenPMjournal">J Pediatr Psychol</span>
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2019 Sep 1;44(8):937-947.
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||
doi: 10.1093/jpepsy/jsz021.
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<span class="bold">PMID: </span><a href="/pubmed/31069392" target="_blank">31069392</a><a href="/pmc/articles/PMC6705716" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30783674">Global birth prevalence of congenital heart defects 1970-2017: updated systematic review and meta-analysis of 260 studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu Y,
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Chen S,
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Zühlke L,
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Black GC,
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Choy MK,
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Li N,
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Keavney BD</span><br />
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<span class="medgenPMjournal">Int J Epidemiol</span>
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2019 Apr 1;48(2):455-463.
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<span class="bold">PMID: </span><a href="/pubmed/30783674" target="_blank">30783674</a><a href="/pmc/articles/PMC6469300" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplastic%20enamel-onycholysis-hypohidrosis%20syndrome%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 (37)</a></div></div>
|
||
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|
||
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<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_content ln"><ul><li><a href="/gtr/tests?term=C0406735%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (16)</a></li>
|
||
<li><a href="/gtr/tests?term=C0406735%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (22)</a></li>
|
||
<li><a href="/gtr/tests?term=C0406735%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (9)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0406735%5bDISCUI%5d" target="_blank">See all (23)</a></total></li>
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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=189500" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2228" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hypoplastic%20enamel-onycholysis-hypohidrosis%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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