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<meta name="keywords" content="C5561945, anencephaly 2, anph2, congenital abnormality, nuak2, 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="Anencephaly-2 (ANPH2) is a severe neural tube defect caused by failure of neural tube closure anteriorly. Features in addition to anencephaly may include frontonasal dysplasia with midline cleft of the upper lip and alveolar ridge, bifid nose, and clinical anophthalmia. For a discussion of genetic heterogeneity of anencephaly, see ANPH1 (206500)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1794155
|
||
ConceptID=C5561945
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Anencephaly 2<span class="h1sub">(ANPH2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794155</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:">C5561945</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>ANENCEPHALY 2; ANPH2</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="NUAK2 - ID: 81788 - NCBI Gene" href="/gene/81788" class="medgenPMinfo">NUAK2</a> (1q32.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0030338" target="_blank">MONDO:0030338</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/619452" target="_blank">619452</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Anencephaly-2 (ANPH2) is a severe neural tube defect caused by failure of neural tube closure anteriorly. Features in addition to anencephaly may include frontonasal dysplasia with midline cleft of the upper lip and alveolar ridge, bifid nose, and clinical anophthalmia. For a discussion of genetic heterogeneity of anencephaly, see ANPH1 (206500). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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</div>
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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_8068"><div><strong>Anencephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8068</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.">C0002902</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Anencephaly is a condition that prevents the normal development of the brain and the bones of the skull. This condition results when a structure called the neural tube fails to close during the first few weeks of embryonic development. The neural tube is a layer of cells that ultimately develops into the brain and spinal cord. Because anencephaly is caused by abnormalities of the neural tube, it is classified as a neural tube defect.\n\nBecause these nervous system abnormalities are so severe, almost all babies with anencephaly die before birth or within a few hours or days after birth.\n\nBecause the neural tube fails to close properly, the developing brain and spinal cord are exposed to the amniotic fluid that surrounds the fetus in the womb. This exposure causes the nervous system tissue to break down (degenerate). As a result, people with anencephaly are missing large parts of the brain called the cerebrum and cerebellum. These brain regions are necessary for thinking, hearing, vision, emotion, and coordinating movement. The bones of the skull are also missing or incompletely formed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8068">Feature record</a> | <a href="/medgen?term=%22Anencephaly%22%5BClinical%20Features%5D%20OR%208068%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66379"><div><strong>Bifid nose</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66379</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.">C0221363</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66379">Feature record</a> | <a href="/medgen?term=%22Bifid%20nose%22%5BClinical%20Features%5D%20OR%2066379%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98067"><div><strong>Short palpebral fissure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98067</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.">C0423112</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98067">Feature record</a> | <a href="/medgen?term=%22Short%20palpebral%20fissure%22%5BClinical%20Features%5D%20OR%2098067%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_342454"><div><strong>Median cleft upper lip</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342454</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.">C1850256</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of cleft lip presenting as a midline (median) gap in the upper lip.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342454">Feature record</a> | <a href="/medgen?term=%22Median%20cleft%20upper%20lip%22%5BClinical%20Features%5D%20OR%20342454%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340670"><div><strong>Median cleft palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340670</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.">C1850968</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cleft palate of the midline of the palate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340670">Feature record</a> | <a href="/medgen?term=%22Median%20cleft%20palate%22%5BClinical%20Features%5D%20OR%20340670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_488995"><div><strong>Cleft maxillary alveolar ridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488995</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.">C2919907</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488995">Feature record</a> | <a href="/medgen?term=%22Cleft%20maxillary%20alveolar%20ridge%22%5BClinical%20Features%5D%20OR%20488995%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_314"><div><strong>Anophthalmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>314</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.">C0003119</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence of the globe or eyeball.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/314">Feature record</a> | <a href="/medgen?term=%22Anophthalmia%22%5BClinical%20Features%5D%20OR%20314%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_66379" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bifid nose</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_488995" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cleft maxillary alveolar ridge</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Median cleft palate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342454" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Median cleft upper lip</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98067" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short palpebral fissure</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_314" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anophthalmia</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8068" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anencephaly</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29770996">Prenatal diagnosis of holoprosencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kousa YA,
|
||
du Plessis AJ,
|
||
Vezina G</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2018 Jun;178(2):206-213.
|
||
Epub 2018 May 17
|
||
doi: 10.1002/ajmg.c.31618.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29770996" target="_blank">29770996</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29189693">Practice Bulletin No. 187: Neural Tube Defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">Obstet Gynecol</span>
|
||
2017 Dec;130(6):e279-e290.
|
||
doi: 10.1097/AOG.0000000000002412.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29189693" target="_blank">29189693</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4117742">Early prenatal diagnosis of anencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brock DJ,
|
||
Scrimgeour JB</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
1972 Dec 9;2(7789):1252-3.
|
||
doi: 10.1016/s0140-6736(72)92306-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4117742" target="_blank">4117742</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(anencephaly%202)%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 (56)</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/31683272">Classifying by cause and preventing the many causes of spina bifida and anencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oakley GP Jr</span><br />
|
||
<span class="medgenPMjournal">Pediatr Res</span>
|
||
2020 Jan;87(2):183-184.
|
||
Epub 2019 Nov 4
|
||
doi: 10.1038/s41390-019-0658-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31683272" target="_blank">31683272</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28628360">Genetic Risk Factors for Folate-Responsive Neural Tube Defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Molloy AM,
|
||
Pangilinan F,
|
||
Brody LC</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Nutr</span>
|
||
2017 Aug 21;37:269-291.
|
||
Epub 2017 Jun 19
|
||
doi: 10.1146/annurev-nutr-071714-034235.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28628360" target="_blank">28628360</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27235920">Screening for Open Neural Tube Defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krantz DA,
|
||
Hallahan TW,
|
||
Carmichael JB</span><br />
|
||
<span class="medgenPMjournal">Clin Lab Med</span>
|
||
2016 Jun;36(2):401-6.
|
||
Epub 2016 Mar 2
|
||
doi: 10.1016/j.cll.2016.01.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27235920" target="_blank">27235920</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26272218">Folic acid supplementation for pregnant women and those planning pregnancy: 2015 update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chitayat D,
|
||
Matsui D,
|
||
Amitai Y,
|
||
Kennedy D,
|
||
Vohra S,
|
||
Rieder M,
|
||
Koren G</span><br />
|
||
<span class="medgenPMjournal">J Clin Pharmacol</span>
|
||
2016 Feb;56(2):170-5.
|
||
Epub 2015 Nov 5
|
||
doi: 10.1002/jcph.616.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26272218" target="_blank">26272218</a><a href="/pmc/articles/PMC4738404" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15292644">Meroacrania.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tubbs RS,
|
||
Blount JP</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurosurg</span>
|
||
2004 Mar-Apr;40(2):95-6.
|
||
doi: 10.1159/000078919.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15292644" target="_blank">15292644</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Anencephaly%202%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 (476)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29189693">Practice Bulletin No. 187: Neural Tube Defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">Obstet Gynecol</span>
|
||
2017 Dec;130(6):e279-e290.
|
||
doi: 10.1097/AOG.0000000000002412.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29189693" target="_blank">29189693</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28628360">Genetic Risk Factors for Folate-Responsive Neural Tube Defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Molloy AM,
|
||
Pangilinan F,
|
||
Brody LC</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Nutr</span>
|
||
2017 Aug 21;37:269-291.
|
||
Epub 2017 Jun 19
|
||
doi: 10.1146/annurev-nutr-071714-034235.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28628360" target="_blank">28628360</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27235920">Screening for Open Neural Tube Defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krantz DA,
|
||
Hallahan TW,
|
||
Carmichael JB</span><br />
|
||
<span class="medgenPMjournal">Clin Lab Med</span>
|
||
2016 Jun;36(2):401-6.
|
||
Epub 2016 Mar 2
|
||
doi: 10.1016/j.cll.2016.01.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27235920" target="_blank">27235920</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26272218">Folic acid supplementation for pregnant women and those planning pregnancy: 2015 update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chitayat D,
|
||
Matsui D,
|
||
Amitai Y,
|
||
Kennedy D,
|
||
Vohra S,
|
||
Rieder M,
|
||
Koren G</span><br />
|
||
<span class="medgenPMjournal">J Clin Pharmacol</span>
|
||
2016 Feb;56(2):170-5.
|
||
Epub 2015 Nov 5
|
||
doi: 10.1002/jcph.616.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26272218" target="_blank">26272218</a><a href="/pmc/articles/PMC4738404" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4127367">Letter: Amniotic-fluid macrophages and anencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sutherland GR,
|
||
Brock DJ,
|
||
Scrimgeour JB</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
1973 Nov 10;2(7837):1098-9.
|
||
doi: 10.1016/s0140-6736(73)92720-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4127367" target="_blank">4127367</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Anencephaly%202%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 (368)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31683272">Classifying by cause and preventing the many causes of spina bifida and anencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oakley GP Jr</span><br />
|
||
<span class="medgenPMjournal">Pediatr Res</span>
|
||
2020 Jan;87(2):183-184.
|
||
Epub 2019 Nov 4
|
||
doi: 10.1038/s41390-019-0658-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31683272" target="_blank">31683272</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29189693">Practice Bulletin No. 187: Neural Tube Defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">Obstet Gynecol</span>
|
||
2017 Dec;130(6):e279-e290.
|
||
doi: 10.1097/AOG.0000000000002412.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29189693" target="_blank">29189693</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28628360">Genetic Risk Factors for Folate-Responsive Neural Tube Defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Molloy AM,
|
||
Pangilinan F,
|
||
Brody LC</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Nutr</span>
|
||
2017 Aug 21;37:269-291.
|
||
Epub 2017 Jun 19
|
||
doi: 10.1146/annurev-nutr-071714-034235.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28628360" target="_blank">28628360</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26272218">Folic acid supplementation for pregnant women and those planning pregnancy: 2015 update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chitayat D,
|
||
Matsui D,
|
||
Amitai Y,
|
||
Kennedy D,
|
||
Vohra S,
|
||
Rieder M,
|
||
Koren G</span><br />
|
||
<span class="medgenPMjournal">J Clin Pharmacol</span>
|
||
2016 Feb;56(2):170-5.
|
||
Epub 2015 Nov 5
|
||
doi: 10.1002/jcph.616.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26272218" target="_blank">26272218</a><a href="/pmc/articles/PMC4738404" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2301360">Paternal occupation and anencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brender JD,
|
||
Suarez L</span><br />
|
||
<span class="medgenPMjournal">Am J Epidemiol</span>
|
||
1990 Mar;131(3):517-21.
|
||
doi: 10.1093/oxfordjournals.aje.a115526.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2301360" target="_blank">2301360</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Anencephaly%202%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 (193)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26272218">Folic acid supplementation for pregnant women and those planning pregnancy: 2015 update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chitayat D,
|
||
Matsui D,
|
||
Amitai Y,
|
||
Kennedy D,
|
||
Vohra S,
|
||
Rieder M,
|
||
Koren G</span><br />
|
||
<span class="medgenPMjournal">J Clin Pharmacol</span>
|
||
2016 Feb;56(2):170-5.
|
||
Epub 2015 Nov 5
|
||
doi: 10.1002/jcph.616.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26272218" target="_blank">26272218</a><a href="/pmc/articles/PMC4738404" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19079944">Not all cases of neural-tube defect can be prevented by increasing the intake of folic acid.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heseker HB,
|
||
Mason JB,
|
||
Selhub J,
|
||
Rosenberg IH,
|
||
Jacques PF</span><br />
|
||
<span class="medgenPMjournal">Br J Nutr</span>
|
||
2009 Jul;102(2):173-80.
|
||
Epub 2008 Dec 16
|
||
doi: 10.1017/S0007114508149200.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19079944" target="_blank">19079944</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17513938">Trial of vaginal breech delivery: current role.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamamura Y,
|
||
Ramin KD,
|
||
Ramin SM</span><br />
|
||
<span class="medgenPMjournal">Clin Obstet Gynecol</span>
|
||
2007 Jun;50(2):526-36.
|
||
doi: 10.1097/GRF.0b013e31804c9d24.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17513938" target="_blank">17513938</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15292644">Meroacrania.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tubbs RS,
|
||
Blount JP</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurosurg</span>
|
||
2004 Mar-Apr;40(2):95-6.
|
||
doi: 10.1159/000078919.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15292644" target="_blank">15292644</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5321827">Congenital malformations of C.N.S.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">Br Med J</span>
|
||
1965 Dec 25;2(5477):1502-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5321827" target="_blank">5321827</a><a href="/pmc/articles/PMC1847297" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Anencephaly%202%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>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32777011">Maternal Use of Specific Antidepressant Medications During Early Pregnancy and the Risk of Selected Birth Defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anderson KN,
|
||
Lind JN,
|
||
Simeone RM,
|
||
Bobo WV,
|
||
Mitchell AA,
|
||
Riehle-Colarusso T,
|
||
Polen KN,
|
||
Reefhuis J</span><br />
|
||
<span class="medgenPMjournal">JAMA Psychiatry</span>
|
||
2020 Dec 1;77(12):1246-1255.
|
||
doi: 10.1001/jamapsychiatry.2020.2453.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32777011" target="_blank">32777011</a><a href="/pmc/articles/PMC7407327" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30537250">Aerodigestive and communicative behaviors in anencephalic and hydranencephalic infants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Radford K,
|
||
Taylor RC,
|
||
Hall JG,
|
||
Gick B</span><br />
|
||
<span class="medgenPMjournal">Birth Defects Res</span>
|
||
2019 Jan 15;111(2):41-52.
|
||
Epub 2018 Dec 10
|
||
doi: 10.1002/bdr2.1424.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30537250" target="_blank">30537250</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26272218">Folic acid supplementation for pregnant women and those planning pregnancy: 2015 update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chitayat D,
|
||
Matsui D,
|
||
Amitai Y,
|
||
Kennedy D,
|
||
Vohra S,
|
||
Rieder M,
|
||
Koren G</span><br />
|
||
<span class="medgenPMjournal">J Clin Pharmacol</span>
|
||
2016 Feb;56(2):170-5.
|
||
Epub 2015 Nov 5
|
||
doi: 10.1002/jcph.616.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26272218" target="_blank">26272218</a><a href="/pmc/articles/PMC4738404" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19079944">Not all cases of neural-tube defect can be prevented by increasing the intake of folic acid.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heseker HB,
|
||
Mason JB,
|
||
Selhub J,
|
||
Rosenberg IH,
|
||
Jacques PF</span><br />
|
||
<span class="medgenPMjournal">Br J Nutr</span>
|
||
2009 Jul;102(2):173-80.
|
||
Epub 2008 Dec 16
|
||
doi: 10.1017/S0007114508149200.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19079944" target="_blank">19079944</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7065376">Hydranencephaly: sleep and movement characteristics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hakamada S,
|
||
Watanabe K,
|
||
Hara K,
|
||
Miyazaki S</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
1982;4(1):45-9.
|
||
doi: 10.1016/s0387-7604(82)80100-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7065376" target="_blank">7065376</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Anencephaly%202%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 (203)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37940152">Birth prevalence and risk factors of neural tube defects in Ethiopia: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tesfay N,
|
||
Hailu G,
|
||
Habtetsion M,
|
||
Woldeyohannes F</span><br />
|
||
<span class="medgenPMjournal">BMJ Open</span>
|
||
2023 Nov 7;13(11):e077685.
|
||
doi: 10.1136/bmjopen-2023-077685.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37940152" target="_blank">37940152</a><a href="/pmc/articles/PMC10632862" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36253858">Global prevalence of congenital anencephaly: a comprehensive systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salari N,
|
||
Fatahi B,
|
||
Fatahian R,
|
||
Mohammadi P,
|
||
Rahmani A,
|
||
Darvishi N,
|
||
Keivan M,
|
||
Shohaimi S,
|
||
Mohammadi M</span><br />
|
||
<span class="medgenPMjournal">Reprod Health</span>
|
||
2022 Oct 17;19(1):201.
|
||
doi: 10.1186/s12978-022-01509-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36253858" target="_blank">36253858</a><a href="/pmc/articles/PMC9575217" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34887455">Prevalence of anencephaly in Africa: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oumer M,
|
||
Kibret AA,
|
||
Girma A,
|
||
Tazebew A,
|
||
Silamsaw M</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2021 Dec 9;11(1):23707.
|
||
doi: 10.1038/s41598-021-02966-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34887455" target="_blank">34887455</a><a href="/pmc/articles/PMC8660872" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34126936">Magnitude and determinants of neural tube defect in Africa: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Atlaw D,
|
||
Tekalegn Y,
|
||
Sahiledengle B,
|
||
Seyoum K,
|
||
Solomon D,
|
||
Gezahegn H,
|
||
Tariku Z,
|
||
Tekle Y,
|
||
Chattu VK</span><br />
|
||
<span class="medgenPMjournal">BMC Pregnancy Childbirth</span>
|
||
2021 Jun 14;21(1):426.
|
||
doi: 10.1186/s12884-021-03848-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34126936" target="_blank">34126936</a><a href="/pmc/articles/PMC8204447" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27385285">Effects of Neonicotinoid Pesticide Exposure on Human Health: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cimino AM,
|
||
Boyles AL,
|
||
Thayer KA,
|
||
Perry MJ</span><br />
|
||
<span class="medgenPMjournal">Environ Health Perspect</span>
|
||
2017 Feb;125(2):155-162.
|
||
Epub 2016 Jul 6
|
||
doi: 10.1289/EHP515.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27385285" target="_blank">27385285</a><a href="/pmc/articles/PMC5289916" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Anencephaly%202%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 (13)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5561945%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5561945%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=619452" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Anencephaly%202" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
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|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(anencephaly%202)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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|
||
|
||
<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=608131" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=81788[geneid]" target="_blank">View NUAK2 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=619452" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/anencephaly_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Anencephaly%202" target="_blank">MedlinePlus</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
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||
<div class="portlet_title">
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<h3>Reviews</h3>
|
||
</div>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Anencephaly%202" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Anencephaly%202%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
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||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1794155" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1794155" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C5561945[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C5561945[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=1794155" ref="log$=recordlinks">OMIM</a>
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