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<meta name="keywords" content="C4539772, arci13, autosomal recessive congenital ichthyosis 13, congenital abnormality, ichthyosis, congenital, autosomal recessive 13, sdr9c7, 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="" /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=1620886
|
||
ConceptID=C4539772
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Ichthyosis, congenital, autosomal recessive 13<span class="h1sub">(ARCI13)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1620886</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:">C4539772</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>ARCI13; ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13</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="SDR9C7 - ID: 121214 - NCBI Gene" href="/gene/121214" class="medgenPMinfo">SDR9C7</a> (12q13.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0033092" target="_blank">MONDO:0033092</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617574" target="_blank">617574</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>
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<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_44017"><div><strong>Palmoplantar keratosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44017</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.">C0022596</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44017">Feature record</a> | <a href="/medgen?term=%22Palmoplantar%20keratosis%22%5BClinical%20Features%5D%20OR%2044017%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11825"><div><strong>Onychomycosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11825</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.">C0040261</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11825">Feature record</a> | <a href="/medgen?term=%22Onychomycosis%22%5BClinical%20Features%5D%20OR%2011825%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7002"><div><strong>Ichthyosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7002</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.">C0020757</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7002">Feature record</a> | <a href="/medgen?term=%22Ichthyosis%22%5BClinical%20Features%5D%20OR%207002%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_209030"><div><strong>Hyperkeratosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>209030</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.">C0870082</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperkeratosis is thickening of the epidermis involving the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/209030">Feature record</a> | <a href="/medgen?term=%22Hyperkeratosis%22%5BClinical%20Features%5D%20OR%20209030%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_481177"><div><strong>Hypergranulosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481177</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.">C3279547</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypergranulosis is an increased thickness of the stratum granulosum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481177">Feature record</a> | <a href="/medgen?term=%22Hypergranulosis%22%5BClinical%20Features%5D%20OR%20481177%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44017" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Palmoplantar keratosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11825" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Onychomycosis</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_481177" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypergranulosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_209030" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperkeratosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7002" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ichthyosis</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/35412663">Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chiramel MJ,
|
||
Mathew L,
|
||
Athirayath R,
|
||
Chapla A,
|
||
Sathishkumar D,
|
||
Mani T,
|
||
Danda S,
|
||
George R</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2022 May;39(3):420-424.
|
||
Epub 2022 Apr 12
|
||
doi: 10.1111/pde.14944.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35412663" target="_blank">35412663</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31168818">Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Simpson JK,
|
||
Martinez-Queipo M,
|
||
Onoufriadis A,
|
||
Tso S,
|
||
Glass E,
|
||
Liu L,
|
||
Higashino T,
|
||
Scott W,
|
||
Tierney C,
|
||
Simpson MA,
|
||
Desomchoke R,
|
||
Youssefian L,
|
||
SaeIdian AH,
|
||
Vahidnezhad H,
|
||
Bisquera A,
|
||
Ravenscroft J,
|
||
Moss C,
|
||
O'Toole EA,
|
||
Burrows N,
|
||
Leech S,
|
||
Jones EA,
|
||
Lim D,
|
||
Ilchyshyn A,
|
||
Goldstraw N,
|
||
Cork MJ,
|
||
Darne S,
|
||
Uitto J,
|
||
Martinez AE,
|
||
Mellerio JE,
|
||
McGrath JA</span><br />
|
||
<span class="medgenPMjournal">Br J Dermatol</span>
|
||
2020 Mar;182(3):729-737.
|
||
Epub 2019 Aug 26
|
||
doi: 10.1111/bjd.18211.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31168818" target="_blank">31168818</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23526325">Difficult diagnoses in an austere environment: a clinical vignette ?the presentation, diagnosis, and management of ichthyosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pickard-Gabriel CJ,
|
||
Rudinsky S</span><br />
|
||
<span class="medgenPMjournal">J Spec Oper Med</span>
|
||
2013 Spring;13(1):61-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23526325" target="_blank">23526325</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(ichthyosis%2C%20congenital%2C%20autosomal%20recessive%2013)%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 (3)</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/36262015">Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Supsrisunjai C,
|
||
Bunnag T,
|
||
Chaowalit P,
|
||
Boonpuen N,
|
||
Kootiratrakarn T,
|
||
Wessagowit V</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2023 Jan;40(1):107-112.
|
||
Epub 2022 Oct 19
|
||
doi: 10.1111/pde.15156.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36262015" target="_blank">36262015</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31168818">Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Simpson JK,
|
||
Martinez-Queipo M,
|
||
Onoufriadis A,
|
||
Tso S,
|
||
Glass E,
|
||
Liu L,
|
||
Higashino T,
|
||
Scott W,
|
||
Tierney C,
|
||
Simpson MA,
|
||
Desomchoke R,
|
||
Youssefian L,
|
||
SaeIdian AH,
|
||
Vahidnezhad H,
|
||
Bisquera A,
|
||
Ravenscroft J,
|
||
Moss C,
|
||
O'Toole EA,
|
||
Burrows N,
|
||
Leech S,
|
||
Jones EA,
|
||
Lim D,
|
||
Ilchyshyn A,
|
||
Goldstraw N,
|
||
Cork MJ,
|
||
Darne S,
|
||
Uitto J,
|
||
Martinez AE,
|
||
Mellerio JE,
|
||
McGrath JA</span><br />
|
||
<span class="medgenPMjournal">Br J Dermatol</span>
|
||
2020 Mar;182(3):729-737.
|
||
Epub 2019 Aug 26
|
||
doi: 10.1111/bjd.18211.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31168818" target="_blank">31168818</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30578701">Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Youssefian L,
|
||
Vahidnezhad H,
|
||
Saeidian AH,
|
||
Touati A,
|
||
Sotoudeh S,
|
||
Mahmoudi H,
|
||
Mansouri P,
|
||
Daneshpazhooh M,
|
||
Aghazadeh N,
|
||
Hesari KK,
|
||
Basiri M,
|
||
Londin E,
|
||
Kumar G,
|
||
Zeinali S,
|
||
Fortina P,
|
||
Uitto J</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2019 Mar;40(3):288-298.
|
||
Epub 2019 Jan 16
|
||
doi: 10.1002/humu.23695.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30578701" target="_blank">30578701</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29444371">Whole-exome sequencing for diagnosis of hereditary ichthyosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sitek JC,
|
||
Kulseth MA,
|
||
Rypdal KB,
|
||
Skodje T,
|
||
Sheng Y,
|
||
Retterstøl L</span><br />
|
||
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
|
||
2018 Jun;32(6):1022-1027.
|
||
Epub 2018 Mar 9
|
||
doi: 10.1111/jdv.14870.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29444371" target="_blank">29444371</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10488862">The orthopaedic presentation and management of Sjögren-Larsson syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haddad FS,
|
||
Lacour M,
|
||
Harper JI,
|
||
Fixsen JA</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop</span>
|
||
1999 Sep-Oct;19(5):617-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10488862" target="_blank">10488862</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ichthyosis%2C%20congenital%2C%20autosomal%20recessive%2013%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 (15)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36262015">Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Supsrisunjai C,
|
||
Bunnag T,
|
||
Chaowalit P,
|
||
Boonpuen N,
|
||
Kootiratrakarn T,
|
||
Wessagowit V</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2023 Jan;40(1):107-112.
|
||
Epub 2022 Oct 19
|
||
doi: 10.1111/pde.15156.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36262015" target="_blank">36262015</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35412663">Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chiramel MJ,
|
||
Mathew L,
|
||
Athirayath R,
|
||
Chapla A,
|
||
Sathishkumar D,
|
||
Mani T,
|
||
Danda S,
|
||
George R</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2022 May;39(3):420-424.
|
||
Epub 2022 Apr 12
|
||
doi: 10.1111/pde.14944.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35412663" target="_blank">35412663</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33954798">The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abeni D,
|
||
Rotunno R,
|
||
Diociaiuti A,
|
||
Giancristoforo S,
|
||
Bonamonte D,
|
||
Filoni A,
|
||
Schepis C,
|
||
Siragusa M,
|
||
Neri I,
|
||
Virdi A,
|
||
Castiglia D,
|
||
Zambruno G,
|
||
Bodemer C,
|
||
El Hachem M</span><br />
|
||
<span class="medgenPMjournal">Acta Derm Venereol</span>
|
||
2021 Jun 22;101(6):adv00477.
|
||
doi: 10.2340/00015555-3822.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33954798" target="_blank">33954798</a><a href="/pmc/articles/PMC9380281" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31168818">Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Simpson JK,
|
||
Martinez-Queipo M,
|
||
Onoufriadis A,
|
||
Tso S,
|
||
Glass E,
|
||
Liu L,
|
||
Higashino T,
|
||
Scott W,
|
||
Tierney C,
|
||
Simpson MA,
|
||
Desomchoke R,
|
||
Youssefian L,
|
||
SaeIdian AH,
|
||
Vahidnezhad H,
|
||
Bisquera A,
|
||
Ravenscroft J,
|
||
Moss C,
|
||
O'Toole EA,
|
||
Burrows N,
|
||
Leech S,
|
||
Jones EA,
|
||
Lim D,
|
||
Ilchyshyn A,
|
||
Goldstraw N,
|
||
Cork MJ,
|
||
Darne S,
|
||
Uitto J,
|
||
Martinez AE,
|
||
Mellerio JE,
|
||
McGrath JA</span><br />
|
||
<span class="medgenPMjournal">Br J Dermatol</span>
|
||
2020 Mar;182(3):729-737.
|
||
Epub 2019 Aug 26
|
||
doi: 10.1111/bjd.18211.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31168818" target="_blank">31168818</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30578701">Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Youssefian L,
|
||
Vahidnezhad H,
|
||
Saeidian AH,
|
||
Touati A,
|
||
Sotoudeh S,
|
||
Mahmoudi H,
|
||
Mansouri P,
|
||
Daneshpazhooh M,
|
||
Aghazadeh N,
|
||
Hesari KK,
|
||
Basiri M,
|
||
Londin E,
|
||
Kumar G,
|
||
Zeinali S,
|
||
Fortina P,
|
||
Uitto J</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2019 Mar;40(3):288-298.
|
||
Epub 2019 Jan 16
|
||
doi: 10.1002/humu.23695.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30578701" target="_blank">30578701</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ichthyosis%2C%20congenital%2C%20autosomal%20recessive%2013%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 (12)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/20385541">Interleukin-1 alpha blockade prevents hyperkeratosis in an in vitro model of lamellar ichthyosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Shaughnessy RF,
|
||
Choudhary I,
|
||
Harper JI</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2010 Jul 1;19(13):2594-605.
|
||
Epub 2010 Apr 12
|
||
doi: 10.1093/hmg/ddq145.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20385541" target="_blank">20385541</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16525484">Restoration of fatty aldehyde dehydrogenase deficiency in Sjögren-Larsson syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haug S,
|
||
Braun-Falco M</span><br />
|
||
<span class="medgenPMjournal">Gene Ther</span>
|
||
2006 Jul;13(13):1021-6.
|
||
Epub 2006 Mar 9
|
||
doi: 10.1038/sj.gt.3302743.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16525484" target="_blank">16525484</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ichthyosis%2C%20congenital%2C%20autosomal%20recessive%2013%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31168818">Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Simpson JK,
|
||
Martinez-Queipo M,
|
||
Onoufriadis A,
|
||
Tso S,
|
||
Glass E,
|
||
Liu L,
|
||
Higashino T,
|
||
Scott W,
|
||
Tierney C,
|
||
Simpson MA,
|
||
Desomchoke R,
|
||
Youssefian L,
|
||
SaeIdian AH,
|
||
Vahidnezhad H,
|
||
Bisquera A,
|
||
Ravenscroft J,
|
||
Moss C,
|
||
O'Toole EA,
|
||
Burrows N,
|
||
Leech S,
|
||
Jones EA,
|
||
Lim D,
|
||
Ilchyshyn A,
|
||
Goldstraw N,
|
||
Cork MJ,
|
||
Darne S,
|
||
Uitto J,
|
||
Martinez AE,
|
||
Mellerio JE,
|
||
McGrath JA</span><br />
|
||
<span class="medgenPMjournal">Br J Dermatol</span>
|
||
2020 Mar;182(3):729-737.
|
||
Epub 2019 Aug 26
|
||
doi: 10.1111/bjd.18211.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31168818" target="_blank">31168818</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31256066">Cushing disease in a patient with nonbullous congenital ichthyosiform erythroderma: lessons in avoiding glucocorticoids in ichthyosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hartley IR,
|
||
Costa Beber Nunes J,
|
||
Lodish M,
|
||
Stratakis CA</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2019 Aug 27;32(8):911-914.
|
||
doi: 10.1515/jpem-2019-0055.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31256066" target="_blank">31256066</a><a href="/pmc/articles/PMC7427504" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20561241">Increased melanocytic nevi in patients with inherited ichthyoses: report of a previously undescribed association.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fernandes JD,
|
||
Machado MC,
|
||
Oliveira ZN</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2010 Sep-Oct;27(5):453-8.
|
||
doi: 10.1111/j.1525-1470.2010.01092.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20561241" target="_blank">20561241</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11841556">Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bitoun E,
|
||
Chavanas S,
|
||
Irvine AD,
|
||
Lonie L,
|
||
Bodemer C,
|
||
Paradisi M,
|
||
Hamel-Teillac D,
|
||
Ansai S,
|
||
Mitsuhashi Y,
|
||
Taïeb A,
|
||
de Prost Y,
|
||
Zambruno G,
|
||
Harper JI,
|
||
Hovnanian A</span><br />
|
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<span class="medgenPMjournal">J Invest Dermatol</span>
|
||
2002 Feb;118(2):352-61.
|
||
doi: 10.1046/j.1523-1747.2002.01603.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11841556" target="_blank">11841556</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ichthyosis%2C%20congenital%2C%20autosomal%20recessive%2013%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 (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36979387">Effects of Triheptanoin on Mitochondrial Respiration and Glycolysis in Cultured Fibroblasts from Neutral Lipid Storage Disease Type M (NLSD-M) Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Noguera NI,
|
||
Tavian D,
|
||
Angelini C,
|
||
Cortese F,
|
||
Filosto M,
|
||
Garibaldi M,
|
||
Missaglia S,
|
||
Smigliani A,
|
||
Zaza A,
|
||
Pennisi EM</span><br />
|
||
<span class="medgenPMjournal">Biomolecules</span>
|
||
2023 Mar 1;13(3)
|
||
doi: 10.3390/biom13030452.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36979387" target="_blank">36979387</a><a href="/pmc/articles/PMC10046759" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33954798">The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abeni D,
|
||
Rotunno R,
|
||
Diociaiuti A,
|
||
Giancristoforo S,
|
||
Bonamonte D,
|
||
Filoni A,
|
||
Schepis C,
|
||
Siragusa M,
|
||
Neri I,
|
||
Virdi A,
|
||
Castiglia D,
|
||
Zambruno G,
|
||
Bodemer C,
|
||
El Hachem M</span><br />
|
||
<span class="medgenPMjournal">Acta Derm Venereol</span>
|
||
2021 Jun 22;101(6):adv00477.
|
||
doi: 10.2340/00015555-3822.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33954798" target="_blank">33954798</a><a href="/pmc/articles/PMC9380281" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32618001">Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mohamad J,
|
||
Nanda A,
|
||
Pavlovsky M,
|
||
Peled A,
|
||
Malchin N,
|
||
Malovitski K,
|
||
Pramanik R,
|
||
Weissglas-Volkov D,
|
||
Shomron N,
|
||
McGrath J,
|
||
Sprecher E,
|
||
Sarig O</span><br />
|
||
<span class="medgenPMjournal">Exp Dermatol</span>
|
||
2020 Aug;29(8):742-748.
|
||
Epub 2020 Jul 20
|
||
doi: 10.1111/exd.14140.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32618001" target="_blank">32618001</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31168818">Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Simpson JK,
|
||
Martinez-Queipo M,
|
||
Onoufriadis A,
|
||
Tso S,
|
||
Glass E,
|
||
Liu L,
|
||
Higashino T,
|
||
Scott W,
|
||
Tierney C,
|
||
Simpson MA,
|
||
Desomchoke R,
|
||
Youssefian L,
|
||
SaeIdian AH,
|
||
Vahidnezhad H,
|
||
Bisquera A,
|
||
Ravenscroft J,
|
||
Moss C,
|
||
O'Toole EA,
|
||
Burrows N,
|
||
Leech S,
|
||
Jones EA,
|
||
Lim D,
|
||
Ilchyshyn A,
|
||
Goldstraw N,
|
||
Cork MJ,
|
||
Darne S,
|
||
Uitto J,
|
||
Martinez AE,
|
||
Mellerio JE,
|
||
McGrath JA</span><br />
|
||
<span class="medgenPMjournal">Br J Dermatol</span>
|
||
2020 Mar;182(3):729-737.
|
||
Epub 2019 Aug 26
|
||
doi: 10.1111/bjd.18211.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31168818" target="_blank">31168818</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24864027">Threshold levels of 25-hydroxyvitamin D and parathyroid hormone for impaired bone health in children with congenital ichthyosis and type IV and V skin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sethuraman G,
|
||
Sreenivas V,
|
||
Yenamandra VK,
|
||
Gupta N,
|
||
Sharma VK,
|
||
Marwaha RK,
|
||
Bhari N,
|
||
Irshad M,
|
||
Kabra M,
|
||
Thulkar S</span><br />
|
||
<span class="medgenPMjournal">Br J Dermatol</span>
|
||
2015 Jan;172(1):208-14.
|
||
Epub 2014 Dec 30
|
||
doi: 10.1111/bjd.13131.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24864027" target="_blank">24864027</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ichthyosis%2C%20congenital%2C%20autosomal%20recessive%2013%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 (9)</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 -->
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<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_content ln"><ul><li><a href="/gtr/tests?term=C4539772%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C4539772%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (4)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4539772%5bDISCUI%5d" target="_blank">See all (5)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=617574" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Ichthyosis,%20congenital,%20autosomal%20recessive%2013" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(ichthyosis%2C%20congenital%2C%20autosomal%20recessive%2013)%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=609769" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=121214[geneid]" target="_blank">View SDR9C7 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=617574" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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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/ichthyosis_congenital_autosomal_recessive_13" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Ichthyosis,%20congenital,%20autosomal%20recessive%2013" target="_blank">MedlinePlus</a></li></ul></div>
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<div class="portlet brieflink">
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<div class="portlet_head">
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<div class="portlet_content">
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<ul>
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<li>
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||
<a href="/pubmed/clinical?term=Ichthyosis,%20congenital,%20autosomal%20recessive%2013" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Ichthyosis,%20congenital,%20autosomal%20recessive%2013%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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</li>
|
||
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|
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<!-- MedGen supplemental column ends here -->
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<div class="portlet_title">
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<h3>Related information</h3>
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||
</div>
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||
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<div class="portlet_content DiscoveryDbLinks">
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<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1620886" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1620886" ref="log$=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=C4539772[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4539772[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=1620886" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=1620886" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=1620886" ref="log$=recordlinks">PMC Articles</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=1620886" ref="log$=recordlinks">PubMed</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=1620886" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
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</div>
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|
||
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<div class="portlet">
|
||
<div class="portlet_head">
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<div class="portlet_title">
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<h3>Recent activity</h3>
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<ul class="mt-3">
|
||
<li>
|
||
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
|
||
</li>
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||
<li>
|
||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</li>
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||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
|
||
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|
||
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||
</div>
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||
</div>
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</section>
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<script type="text/javascript" src="/portal/portal3rc.fcgi/static/js/hfjs2.js"> </script>
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