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<meta name="keywords" content="C0265338, coffin-siris syndrome, css, disease or syndrome, dwarfism-onychodysplasia, fifth digit syndrome, hhid, hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features, intellectual disability with absent fifth fingernail and terminal phalanx, short stature-onychodysplasia., 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="Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. Congenital anomalies can include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Other findings commonly include feeding difficulties, slow growth, ophthalmologic abnormalities, and hearing impairment." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=75565
|
||
ConceptID=C0265338
|
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-->
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<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK131811/bin/coffin-siris-Image001.gif" src-large="/books/NBK131811/bin/coffin-siris-Image001.jpg" /></a><br /><a href="/books/NBK131811/figure/coffin-siris.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Coffin-Siris syndrome<span class="h1sub">(CSS; HHID)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75565</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:">C0265338</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Fifth digit syndrome; Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Coffin-Siris syndrome (10007009)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0015452" target="_blank">MONDO:0015452</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/135900" target="_blank">135900</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS135900" target="_blank">PS135900</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1465">ORPHA1465</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_101">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK131811" target="_blank">Coffin-Siris Syndrome</a></div><div>Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. Congenital anomalies can include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Other findings commonly include feeding difficulties, slow growth, ophthalmologic abnormalities, and hearing impairment. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK131811#coffin-siris.Summary" target="NBK131811">Summary</a> | <a class="medgenPMinfo" href="/books/NBK131811#coffin-siris.Diagnosis" target="NBK131811">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK131811#coffin-siris.Clinical_Characteristics" target="NBK131811">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK131811#coffin-siris.Genetically_Related_Allelic" target="NBK131811">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK131811#coffin-siris.Differential_Diagnosis" target="NBK131811">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK131811#coffin-siris.Management" target="NBK131811">Management</a> | <a class="medgenPMinfo" href="/books/NBK131811#coffin-siris.Genetic_Counseling" target="NBK131811">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK131811#coffin-siris.Resources" target="NBK131811">Resources</a> | <a class="medgenPMinfo" href="/books/NBK131811#coffin-siris.Molecular_Genetics" target="NBK131811">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK131811#coffin-siris.Chapter_Notes" target="NBK131811">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK131811#coffin-siris.References" target="NBK131811">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Samantha Schrier Vergano | Gijs Santen | Dagmar Wieczorek<i>, et. al.</i> <a href="/books/NBK131811" target="NBK131811" title="NCBI Bookshelf: Coffin-Siris Syndrome">view full author information</a></div></div>
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||
</div>
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||
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||
<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by Vergano and Deardorff, 2014). Mutations in the ARID1B gene are the most common cause of Coffin-Siris syndrome (Wieczorek et al., 2013).
|
||
Genetic Heterogeneity of Coffin-Siris Syndrome
|
||
Forms of Coffin-Siris syndrome have been shown to be caused by mutations in genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor. These include CSS2 (614607), caused by mutation in the ARID1A gene (603024); CSS3 (614608), caused by mutation in the SMARCB1 gene (601607); CSS4 (614609), caused by mutation in the SMARCA4 gene (603254); CSS5 (616938), caused by mutation in the SMARCE1 gene (603111); CSS6 (617808), caused by mutation in the ARID2 gene (609539); CSS7 (618027), caused by mutation in the DPF2 gene (601671); CSS8 (618362), caused by mutation in the SMARCC2 gene (601734); CSS9 (615866), caused by mutation in the SOX11 gene (600898); CSS10 (618506), caused by mutation in the SOX4 gene (184430); CSS11 (618779), caused by mutation in the SMARCD1 gene (601735); and CSS12 (619325), caused by mutation in the BICRA gene (605690).
|
||
A similar phenotype, Nicolaides-Baraitser syndrome (NCBRS; 601358), is also caused by mutation in a subunit of this complex, i.e., SMARCA2 (600014). <a target="_blank" href="http://www.omim.org/entry/135900">http://www.omim.org/entry/135900</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Coffin-Siris syndrome is a condition that affects several body systems. Although there are many variable signs and symptoms, hallmarks of this condition include developmental disability, abnormalities of the fifth (pinky) fingers or toes, and characteristic facial features.<br /><br />Most affected individuals have mild to severe intellectual disability or delayed development of speech and motor skills such as sitting and walking. Another feature of Coffin-Siris syndrome is underdevelopment (hypoplasia) of the tips of the fingers or toes, or hypoplasia or absence of the nails. These abnormalities are most common on the fifth fingers or toes. <br /><br />In addition, most people with Coffin-Siris syndrome have facial features described as coarse. These features typically include a wide nose with a flat nasal bridge, a wide mouth with thick lips, and thick eyebrows and eyelashes. Affected individuals can have excess hair on other parts of the face and body (hirsutism), but scalp hair is often sparse. People with Coffin-Siris syndrome can have a range of facial features, and not all affected individuals have the typical features. In addition, people with this condition may have an abnormally small head (microcephaly).<br /><br />Additionally, some infants and children with Coffin-Siris syndrome have frequent respiratory infections, difficulty feeding, and an inability to gain weight at the expected rate (failure to thrive). Other signs and symptoms that may occur in people with this condition include short stature, low muscle tone (hypotonia), and abnormally loose (lax) joints. Abnormalities of the eyes, brain, heart, and kidneys may also be present. <a target="_blank" href="https://medlineplus.gov/genetics/condition/coffin-siris-syndrome">https://medlineplus.gov/genetics/condition/coffin-siris-syndrome</a></div></div>
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||
</div>
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|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0265338[DISCUI]&test_type=Clinical" ref="ncbi_uid=75565">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75565" target="_blank" href="/omim/135900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK131811/" ref="ncbi_uid=75565">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=75565" ref="ncbi_uid=75565">V</a></span></span><span class="TLline">Coffin-Siris syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842392" ref="tree=MeSH" title="MedGen record for Dysostosis with brachydactyly with extraskeletal manifestations">Dysostosis with brachydactyly with extraskeletal manifestations</a></span><ul><li><span class="matched_ds">Coffin-Siris syndrome</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=321&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Coffin-Siris syndrome</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37538046">First-trimester prenatal diagnosis of Coffin-Siris syndrome-related congenital diaphragmatic hernia: The role of exome sequencing in determining genetic etiology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jing XY,
|
||
Zhen L,
|
||
Lin XM,
|
||
Li DZ</span><br />
|
||
<span class="medgenPMjournal">Congenit Anom (Kyoto)</span>
|
||
2023 Nov;63(6):211-213.
|
||
Epub 2023 Aug 4
|
||
doi: 10.1111/cga.12535.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37538046" target="_blank">37538046</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35801292">Prenatal diagnosis of Coffin-Siris syndrome: What are the fetal features?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yu QX,
|
||
Jing XY,
|
||
Lin XM,
|
||
Zhen L,
|
||
Li DZ</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2022 Nov;42(12):1488-1492.
|
||
Epub 2022 Jul 18
|
||
doi: 10.1002/pd.6213.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35801292" target="_blank">35801292</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34205270">Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vasko A,
|
||
Drivas TG,
|
||
Schrier Vergano SA</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2021 Jun 19;12(6)
|
||
doi: 10.3390/genes12060937.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34205270" target="_blank">34205270</a><a href="/pmc/articles/PMC8233770" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22coffin-siris%20syndrome%22%5Btiab%3A~0%5D)%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 (11)</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/38117302">Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schmetz A,
|
||
Lüdecke HJ,
|
||
Surowy H,
|
||
Sivalingam S,
|
||
Bruel AL,
|
||
Caumes R,
|
||
Charles P,
|
||
Chatron N,
|
||
Chrzanowska K,
|
||
Codina-Solà M,
|
||
Colson C,
|
||
Cuscó I,
|
||
Denommé-Pichon AS,
|
||
Edery P,
|
||
Faivre L,
|
||
Green A,
|
||
Heide S,
|
||
Hsieh TC,
|
||
Hustinx A,
|
||
Kleinendorst L,
|
||
Knopp C,
|
||
Kraft F,
|
||
Krawitz PM,
|
||
Lasa-Aranzasti A,
|
||
Lesca G,
|
||
López-González V,
|
||
Maraval J,
|
||
Mignot C,
|
||
Neuhann T,
|
||
Netzer C,
|
||
Oehl-Jaschkowitz B,
|
||
Petit F,
|
||
Philippe C,
|
||
Posmyk R,
|
||
Putoux A,
|
||
Reis A,
|
||
Sánchez-Soler MJ,
|
||
Suh J,
|
||
Tkemaladze T,
|
||
Tran Mau Them F,
|
||
Travessa A,
|
||
Trujillano L,
|
||
Valenzuela I,
|
||
van Haelst MM,
|
||
Vasileiou G,
|
||
Vincent-Delorme C,
|
||
Walther M,
|
||
Verde P,
|
||
Bramswig NC,
|
||
Wieczorek D</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2024 Jan;143(1):71-84.
|
||
Epub 2023 Dec 20
|
||
doi: 10.1007/s00439-023-02622-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38117302" target="_blank">38117302</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37551667">Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bosch E,
|
||
Popp B,
|
||
Güse E,
|
||
Skinner C,
|
||
van der Sluijs PJ,
|
||
Maystadt I,
|
||
Pinto AM,
|
||
Renieri A,
|
||
Bruno LP,
|
||
Granata S,
|
||
Marcelis C,
|
||
Baysal Ö,
|
||
Hartwich D,
|
||
Holthöfer L,
|
||
Isidor B,
|
||
Cogne B,
|
||
Wieczorek D,
|
||
Capra V,
|
||
Scala M,
|
||
De Marco P,
|
||
Ognibene M,
|
||
Jamra RA,
|
||
Platzer K,
|
||
Carter LB,
|
||
Kuismin O,
|
||
van Haeringen A,
|
||
Maroofian R,
|
||
Valenzuela I,
|
||
Cuscó I,
|
||
Martinez-Agosto JA,
|
||
Rabani AM,
|
||
Mefford HC,
|
||
Pereira EM,
|
||
Close C,
|
||
Anyane-Yeboa K,
|
||
Wagner M,
|
||
Hannibal MC,
|
||
Zacher P,
|
||
Thiffault I,
|
||
Beunders G,
|
||
Umair M,
|
||
Bhola PT,
|
||
McGinnis E,
|
||
Millichap J,
|
||
van de Kamp JM,
|
||
Prijoles EJ,
|
||
Dobson A,
|
||
Shillington A,
|
||
Graham BH,
|
||
Garcia EJ,
|
||
Galindo MK,
|
||
Ropers FG,
|
||
Nibbeling EAR,
|
||
Hubbard G,
|
||
Karimov C,
|
||
Goj G,
|
||
Bend R,
|
||
Rath J,
|
||
Morrow MM,
|
||
Millan F,
|
||
Salpietro V,
|
||
Torella A,
|
||
Nigro V,
|
||
Kurki M,
|
||
Stevenson RE,
|
||
Santen GWE,
|
||
Zweier M,
|
||
Campeau PM,
|
||
Severino M,
|
||
Reis A,
|
||
Accogli A,
|
||
Vasileiou G</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2023 Nov;25(11):100950.
|
||
Epub 2023 Aug 5
|
||
doi: 10.1016/j.gim.2023.100950.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37551667" target="_blank">37551667</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36049608">"Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma".</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cárcamo B,
|
||
Masotto B,
|
||
Baquero-Vaquer A,
|
||
Ceballos-Saenz D,
|
||
Zapata-Aldana E</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2022 Nov;65(11):104600.
|
||
Epub 2022 Aug 29
|
||
doi: 10.1016/j.ejmg.2022.104600.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36049608" target="_blank">36049608</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34205270">Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vasko A,
|
||
Drivas TG,
|
||
Schrier Vergano SA</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2021 Jun 19;12(6)
|
||
doi: 10.3390/genes12060937.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34205270" target="_blank">34205270</a><a href="/pmc/articles/PMC8233770" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24434855">The genetics of cognitive epigenetics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kleefstra T,
|
||
Schenck A,
|
||
Kramer JM,
|
||
van Bokhoven H</span><br />
|
||
<span class="medgenPMjournal">Neuropharmacology</span>
|
||
2014 May;80:83-94.
|
||
Epub 2014 Jan 13
|
||
doi: 10.1016/j.neuropharm.2013.12.025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24434855" target="_blank">24434855</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Coffin-Siris%20syndrome%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (41)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37646735">Recurrence of ARID1B -related Coffin-Siris Syndrome by possible gonadal mosaicism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uctepe E,
|
||
Erguner B,
|
||
Sonmez FM</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2023 Oct 1;32(4):180-183.
|
||
Epub 2023 Aug 10
|
||
doi: 10.1097/MCD.0000000000000473.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37646735" target="_blank">37646735</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37052010">A newborn with coffin-siris syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cui L,
|
||
Jin X</span><br />
|
||
<span class="medgenPMjournal">J Pak Med Assoc</span>
|
||
2023 Apr;73(4):896-900.
|
||
doi: 10.47391/JPMA.5157.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37052010" target="_blank">37052010</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30349098">The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van der Sluijs PJ,
|
||
Jansen S,
|
||
Vergano SA,
|
||
Adachi-Fukuda M,
|
||
Alanay Y,
|
||
AlKindy A,
|
||
Baban A,
|
||
Bayat A,
|
||
Beck-Wödl S,
|
||
Berry K,
|
||
Bijlsma EK,
|
||
Bok LA,
|
||
Brouwer AFJ,
|
||
van der Burgt I,
|
||
Campeau PM,
|
||
Canham N,
|
||
Chrzanowska K,
|
||
Chu YWY,
|
||
Chung BHY,
|
||
Dahan K,
|
||
De Rademaeker M,
|
||
Destree A,
|
||
Dudding-Byth T,
|
||
Earl R,
|
||
Elcioglu N,
|
||
Elias ER,
|
||
Fagerberg C,
|
||
Gardham A,
|
||
Gener B,
|
||
Gerkes EH,
|
||
Grasshoff U,
|
||
van Haeringen A,
|
||
Heitink KR,
|
||
Herkert JC,
|
||
den Hollander NS,
|
||
Horn D,
|
||
Hunt D,
|
||
Kant SG,
|
||
Kato M,
|
||
Kayserili H,
|
||
Kersseboom R,
|
||
Kilic E,
|
||
Krajewska-Walasek M,
|
||
Lammers K,
|
||
Laulund LW,
|
||
Lederer D,
|
||
Lees M,
|
||
López-González V,
|
||
Maas S,
|
||
Mancini GMS,
|
||
Marcelis C,
|
||
Martinez F,
|
||
Maystadt I,
|
||
McGuire M,
|
||
McKee S,
|
||
Mehta S,
|
||
Metcalfe K,
|
||
Milunsky J,
|
||
Mizuno S,
|
||
Moeschler JB,
|
||
Netzer C,
|
||
Ockeloen CW,
|
||
Oehl-Jaschkowitz B,
|
||
Okamoto N,
|
||
Olminkhof SNM,
|
||
Orellana C,
|
||
Pasquier L,
|
||
Pottinger C,
|
||
Riehmer V,
|
||
Robertson SP,
|
||
Roifman M,
|
||
Rooryck C,
|
||
Ropers FG,
|
||
Rosello M,
|
||
Ruivenkamp CAL,
|
||
Sagiroglu MS,
|
||
Sallevelt SCEH,
|
||
Sanchis Calvo A,
|
||
Simsek-Kiper PO,
|
||
Soares G,
|
||
Solaeche L,
|
||
Sonmez FM,
|
||
Splitt M,
|
||
Steenbeek D,
|
||
Stegmann APA,
|
||
Stumpel CTRM,
|
||
Tanabe S,
|
||
Uctepe E,
|
||
Utine GE,
|
||
Veenstra-Knol HE,
|
||
Venkateswaran S,
|
||
Vilain C,
|
||
Vincent-Delorme C,
|
||
Vulto-van Silfhout AT,
|
||
Wheeler P,
|
||
Wilson GN,
|
||
Wilson LC,
|
||
Wollnik B,
|
||
Kosho T,
|
||
Wieczorek D,
|
||
Eichler E,
|
||
Pfundt R,
|
||
de Vries BBA,
|
||
Clayton-Smith J,
|
||
Santen GWE</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2019 Jun;21(6):1295-1307.
|
||
Epub 2018 Nov 8
|
||
doi: 10.1038/s41436-018-0330-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30349098" target="_blank">30349098</a><a href="/pmc/articles/PMC6752273" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17523151">Upper gastrointestinal malformations in Coffin-Siris syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kellermayer R,
|
||
Kitagawa S,
|
||
Redel CA,
|
||
Cass DL,
|
||
Belmont JW,
|
||
Klish W</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2007 Jul 1;143A(13):1519-21.
|
||
doi: 10.1002/ajmg.a.31865.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17523151" target="_blank">17523151</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/665590">The Coffin-Siris syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feingold M</span><br />
|
||
<span class="medgenPMjournal">Am J Dis Child</span>
|
||
1978 Jul;132(7):660-1.
|
||
doi: 10.1001/archpedi.1978.02120320020003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/665590" target="_blank">665590</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Coffin-Siris%20syndrome%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 (100)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39279315">More than three years' treatment response of recombinant human growth hormone in a patient with Coffin-Siris syndrome 7.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li Y,
|
||
Wang Q,
|
||
Gong C</span><br />
|
||
<span class="medgenPMjournal">Endokrynol Pol</span>
|
||
2024;75(4):450-451.
|
||
doi: 10.5603/ep.100454.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39279315" target="_blank">39279315</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36385502">Acetate supplementation restores cognitive deficits caused by ARID1A haploinsufficiency in excitatory neurons.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu PP,
|
||
Dai SK,
|
||
Mi TW,
|
||
Tang GB,
|
||
Wang Z,
|
||
Wang H,
|
||
Du HZ,
|
||
Tang Y,
|
||
Teng ZQ,
|
||
Liu CM</span><br />
|
||
<span class="medgenPMjournal">EMBO Mol Med</span>
|
||
2022 Dec 7;14(12):e15795.
|
||
Epub 2022 Nov 17
|
||
doi: 10.15252/emmm.202215795.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36385502" target="_blank">36385502</a><a href="/pmc/articles/PMC9728054" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31722744">BRM: the core ATPase subunit of SWI/SNF chromatin-remodelling complex-a tumour suppressor or tumour-promoting factor?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jancewicz I,
|
||
Siedlecki JA,
|
||
Sarnowski TJ,
|
||
Sarnowska E</span><br />
|
||
<span class="medgenPMjournal">Epigenetics Chromatin</span>
|
||
2019 Nov 13;12(1):68.
|
||
doi: 10.1186/s13072-019-0315-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31722744" target="_blank">31722744</a><a href="/pmc/articles/PMC6852734" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31243159">Inflammatory Arthritis as a Possible Feature of Coffin-Siris Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Melo Gomes S,
|
||
Dias C,
|
||
Omoyinmi E,
|
||
Compeyrot-Lacassagne S,
|
||
Klein N,
|
||
Sebire NJ,
|
||
Brogan P</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2019 Jul;144(1)
|
||
doi: 10.1542/peds.2018-1741.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31243159" target="_blank">31243159</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25724810">Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bramswig NC,
|
||
Lüdecke HJ,
|
||
Alanay Y,
|
||
Albrecht B,
|
||
Barthelmie A,
|
||
Boduroglu K,
|
||
Braunholz D,
|
||
Caliebe A,
|
||
Chrzanowska KH,
|
||
Czeschik JC,
|
||
Endele S,
|
||
Graf E,
|
||
Guillén-Navarro E,
|
||
Kiper PÖ,
|
||
López-González V,
|
||
Parenti I,
|
||
Pozojevic J,
|
||
Utine GE,
|
||
Wieland T,
|
||
Kaiser FJ,
|
||
Wollnik B,
|
||
Strom TM,
|
||
Wieczorek D</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2015 Jun;134(6):553-68.
|
||
Epub 2015 Feb 28
|
||
doi: 10.1007/s00439-015-1535-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25724810" target="_blank">25724810</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Coffin-Siris%20syndrome%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 (5)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33714239">A boy with Coffin-Siris syndrome with a novel frameshift mutation in ARID1B.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Park H,
|
||
Kim MS,
|
||
Kim J,
|
||
Jang JH,
|
||
Choi JM,
|
||
Lee SM,
|
||
Cho SY,
|
||
Jin DK</span><br />
|
||
<span class="medgenPMjournal">Neuro Endocrinol Lett</span>
|
||
2021 Jan;41(6):285-289.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33714239" target="_blank">33714239</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32161024">First Korean Case of Coffin-Siris Syndrome with a Novel Frameshift ARID1B Mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee BL,
|
||
Oh SH,
|
||
Jun KR,
|
||
Hur YJ,
|
||
Lee JE,
|
||
Keum C,
|
||
Chung WY</span><br />
|
||
<span class="medgenPMjournal">Ann Clin Lab Sci</span>
|
||
2020 Jan;50(1):140-145.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32161024" target="_blank">32161024</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29397238">Hereditary SWI/SNF complex deficiency syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Agaimy A,
|
||
Foulkes WD</span><br />
|
||
<span class="medgenPMjournal">Semin Diagn Pathol</span>
|
||
2018 May;35(3):193-198.
|
||
Epub 2018 Feb 1
|
||
doi: 10.1053/j.semdp.2018.01.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29397238" target="_blank">29397238</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28566769">A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaname T,
|
||
Yanagi K</span><br />
|
||
<span class="medgenPMjournal">J Hum Genet</span>
|
||
2017 Aug;62(8):739-740.
|
||
Epub 2017 Jun 1
|
||
doi: 10.1038/jhg.2017.58.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28566769" target="_blank">28566769</a><a href="/pmc/articles/PMC5537411" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25169753">The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vandeweyer G,
|
||
Helsmoortel C,
|
||
Van Dijck A,
|
||
Vulto-van Silfhout AT,
|
||
Coe BP,
|
||
Bernier R,
|
||
Gerdts J,
|
||
Rooms L,
|
||
van den Ende J,
|
||
Bakshi M,
|
||
Wilson M,
|
||
Nordgren A,
|
||
Hendon LG,
|
||
Abdulrahman OA,
|
||
Romano C,
|
||
de Vries BB,
|
||
Kleefstra T,
|
||
Eichler EE,
|
||
Van der Aa N,
|
||
Kooy RF</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2014 Sep;166C(3):315-26.
|
||
Epub 2014 Aug 28
|
||
doi: 10.1002/ajmg.c.31413.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25169753" target="_blank">25169753</a><a href="/pmc/articles/PMC4195434" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Coffin-Siris%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (31)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38243407">ARID2, a milder cause of Coffin-Siris Syndrome? Broadening the phenotype with 17 additional individuals.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schrier Vergano SA</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2024 Jun;194(6):e63540.
|
||
Epub 2024 Jan 19
|
||
doi: 10.1002/ajmg.a.63540.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38243407" target="_blank">38243407</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35232796">Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Angelozzi M,
|
||
Karvande A,
|
||
Molin AN,
|
||
Ritter AL,
|
||
Leonard JMM,
|
||
Savatt JM,
|
||
Douglass K,
|
||
Myers SM,
|
||
Grippa M,
|
||
Tolchin D,
|
||
Zackai E,
|
||
Donoghue S,
|
||
Hurst ACE,
|
||
Descartes M,
|
||
Smith K,
|
||
Velasco D,
|
||
Schmanski A,
|
||
Crunk A,
|
||
Tokita MJ,
|
||
de Lange IM,
|
||
van Gassen K,
|
||
Robinson H,
|
||
Guegan K,
|
||
Suri M,
|
||
Patel C,
|
||
Bournez M,
|
||
Faivre L,
|
||
Tran-Mau-Them F,
|
||
Baker J,
|
||
Fabie N,
|
||
Weaver K,
|
||
Shillington A,
|
||
Hopkin RJ,
|
||
Barge-Schaapveld DQCM,
|
||
Ruivenkamp CA,
|
||
Bökenkamp R,
|
||
Vergano S,
|
||
Seco Moro MN,
|
||
Díaz de Bustamante A,
|
||
Misra VK,
|
||
Kennelly K,
|
||
Rogers C,
|
||
Friedman J,
|
||
Wigby KM,
|
||
Lenberg J,
|
||
Graziano C,
|
||
Ahrens-Nicklas RC,
|
||
Lefebvre V</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2022 Nov;59(11):1058-1068.
|
||
Epub 2022 Mar 1
|
||
doi: 10.1136/jmedgenet-2021-108375.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35232796" target="_blank">35232796</a><a href="/pmc/articles/PMC9433470" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33714239">A boy with Coffin-Siris syndrome with a novel frameshift mutation in ARID1B.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Park H,
|
||
Kim MS,
|
||
Kim J,
|
||
Jang JH,
|
||
Choi JM,
|
||
Lee SM,
|
||
Cho SY,
|
||
Jin DK</span><br />
|
||
<span class="medgenPMjournal">Neuro Endocrinol Lett</span>
|
||
2021 Jan;41(6):285-289.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33714239" target="_blank">33714239</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30349098">The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van der Sluijs PJ,
|
||
Jansen S,
|
||
Vergano SA,
|
||
Adachi-Fukuda M,
|
||
Alanay Y,
|
||
AlKindy A,
|
||
Baban A,
|
||
Bayat A,
|
||
Beck-Wödl S,
|
||
Berry K,
|
||
Bijlsma EK,
|
||
Bok LA,
|
||
Brouwer AFJ,
|
||
van der Burgt I,
|
||
Campeau PM,
|
||
Canham N,
|
||
Chrzanowska K,
|
||
Chu YWY,
|
||
Chung BHY,
|
||
Dahan K,
|
||
De Rademaeker M,
|
||
Destree A,
|
||
Dudding-Byth T,
|
||
Earl R,
|
||
Elcioglu N,
|
||
Elias ER,
|
||
Fagerberg C,
|
||
Gardham A,
|
||
Gener B,
|
||
Gerkes EH,
|
||
Grasshoff U,
|
||
van Haeringen A,
|
||
Heitink KR,
|
||
Herkert JC,
|
||
den Hollander NS,
|
||
Horn D,
|
||
Hunt D,
|
||
Kant SG,
|
||
Kato M,
|
||
Kayserili H,
|
||
Kersseboom R,
|
||
Kilic E,
|
||
Krajewska-Walasek M,
|
||
Lammers K,
|
||
Laulund LW,
|
||
Lederer D,
|
||
Lees M,
|
||
López-González V,
|
||
Maas S,
|
||
Mancini GMS,
|
||
Marcelis C,
|
||
Martinez F,
|
||
Maystadt I,
|
||
McGuire M,
|
||
McKee S,
|
||
Mehta S,
|
||
Metcalfe K,
|
||
Milunsky J,
|
||
Mizuno S,
|
||
Moeschler JB,
|
||
Netzer C,
|
||
Ockeloen CW,
|
||
Oehl-Jaschkowitz B,
|
||
Okamoto N,
|
||
Olminkhof SNM,
|
||
Orellana C,
|
||
Pasquier L,
|
||
Pottinger C,
|
||
Riehmer V,
|
||
Robertson SP,
|
||
Roifman M,
|
||
Rooryck C,
|
||
Ropers FG,
|
||
Rosello M,
|
||
Ruivenkamp CAL,
|
||
Sagiroglu MS,
|
||
Sallevelt SCEH,
|
||
Sanchis Calvo A,
|
||
Simsek-Kiper PO,
|
||
Soares G,
|
||
Solaeche L,
|
||
Sonmez FM,
|
||
Splitt M,
|
||
Steenbeek D,
|
||
Stegmann APA,
|
||
Stumpel CTRM,
|
||
Tanabe S,
|
||
Uctepe E,
|
||
Utine GE,
|
||
Veenstra-Knol HE,
|
||
Venkateswaran S,
|
||
Vilain C,
|
||
Vincent-Delorme C,
|
||
Vulto-van Silfhout AT,
|
||
Wheeler P,
|
||
Wilson GN,
|
||
Wilson LC,
|
||
Wollnik B,
|
||
Kosho T,
|
||
Wieczorek D,
|
||
Eichler E,
|
||
Pfundt R,
|
||
de Vries BBA,
|
||
Clayton-Smith J,
|
||
Santen GWE</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2019 Jun;21(6):1295-1307.
|
||
Epub 2018 Nov 8
|
||
doi: 10.1038/s41436-018-0330-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30349098" target="_blank">30349098</a><a href="/pmc/articles/PMC6752273" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25169814">The ARID1B phenotype: what we have learned so far.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santen GW,
|
||
Clayton-Smith J;
|
||
ARID1B-CSS consortium</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2014 Sep;166C(3):276-89.
|
||
Epub 2014 Aug 28
|
||
doi: 10.1002/ajmg.c.31414.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25169814" target="_blank">25169814</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Coffin-Siris%20syndrome%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (45)</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/34919300">Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hutchison DM,
|
||
Duffens A,
|
||
Yale K,
|
||
Park A,
|
||
Cardenas K,
|
||
Mesinkovska NA</span><br />
|
||
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
|
||
2022 Apr;36(4):536-546.
|
||
Epub 2021 Dec 31
|
||
doi: 10.1111/jdv.17877.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34919300" target="_blank">34919300</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Coffin-Siris%20syndrome%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
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<div class="supplemental col three_col last">
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0265338%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C0265338%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C0265338%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0265338%5bDISCUI%5d" target="_blank">See all (6)</a></total></li>
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