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<meta name="keywords" content="17q21.31 deletion syndrome, 17q21.31 microdeletion syndrome, 17q21.31 recurrent microdeletion syndrome, CN311570, chromosome 17q21.31 deletion syndrome, chromosome 17q21.31 microdeletion syndrome, del(17)(q21.31), disease or syndrome, koolen-de vries syndrome due to 17q21.31 microdeletion syndrome, monosomy 17q21.31, 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="Koolen-de Vries syndrome (KDVS) is characterized by moderately to severely impaired intellectual development, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures (summary by Koolen et al., 2012)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=992590
|
||
ConceptID=CN311570
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>992590</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN311570</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>17q21.31 deletion syndrome; 17q21.31 microdeletion syndrome; CHROMOSOME 17q21.31 DELETION SYNDROME; Chromosome 17q21.31 microdeletion syndrome; Monosomy 17q21.31</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:0018216" target="_blank">MONDO:0018216</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=363958">ORPHA363958</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Koolen-de Vries syndrome (KDVS) is characterized by moderately to severely impaired intellectual development, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures (summary by Koolen et al., 2012). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
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||
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1864871[DISCUI]&test_type=Clinical" ref="ncbi_uid=355853">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355853" target="_blank" href="/omim/610443">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK24676/" ref="ncbi_uid=355853">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=355853" ref="ncbi_uid=355853">V</a></span></span><span class="TLline"><a href="/medgen/355853" ref="tree=GTR&ncbi_uid=355853&link_uid=355853" title="View MedGen record for 'Koolen-de Vries syndrome'">Koolen-de Vries syndrome</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1843302" ref="tree=GTR&ncbi_uid=1843302&link_uid=1843302" title="View MedGen record for 'Koolen-de Vries syndrome due to a point mutation'">Koolen-de Vries syndrome due to a point mutation</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1826158" ref="tree=MeSH" title="MedGen record for Multiple congenital anomalies/dysmorphic syndrome-intellectual disability">Multiple congenital anomalies/dysmorphic syndrome-intellectual disability</a></span><ul><li><span class="TLline"><a href="/medgen/355853" ref="tree=MeSH" title="MedGen record for Koolen-de Vries syndrome">Koolen-de Vries syndrome</a></span><ul><li><span class="matched_ds">Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome</span></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
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||
<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/30634886">Prenatal diagnosis of 17q12 deletion syndrome: a retrospective case series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jing XY,
|
||
Huang LY,
|
||
Zhen L,
|
||
Han J,
|
||
Li DZ</span><br />
|
||
<span class="medgenPMjournal">J Obstet Gynaecol</span>
|
||
2019 Apr;39(3):323-327.
|
||
Epub 2019 Jan 11
|
||
doi: 10.1080/01443615.2018.1519693.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30634886" target="_blank">30634886</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(koolen-de%20vries%20syndrome%20due%20to%2017q21.31%20microdeletion%20syndrome)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</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/37350176">Clinical and radiological assessment of scoliosis in Koolen-de Vries syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bouman A,
|
||
Bouwmeester RN,
|
||
van Vlimmeren LA,
|
||
Burger P,
|
||
Mandel JL,
|
||
de Vries BBA,
|
||
de Kleuver M,
|
||
Klein WM,
|
||
Geelen JM,
|
||
Koolen DA</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2023 Sep;191(9):2346-2355.
|
||
Epub 2023 Jun 23
|
||
doi: 10.1002/ajmg.a.63334.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37350176" target="_blank">37350176</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33361104">Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amenta S,
|
||
Frangella S,
|
||
Marangi G,
|
||
Lattante S,
|
||
Ricciardi S,
|
||
Doronzio PN,
|
||
Orteschi D,
|
||
Veredice C,
|
||
Contaldo I,
|
||
Zampino G,
|
||
Gentile M,
|
||
Scarano E,
|
||
Graziano C,
|
||
Zollino M</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2022 Feb;59(2):189-195.
|
||
Epub 2020 Dec 24
|
||
doi: 10.1136/jmedgenet-2020-107225.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33361104" target="_blank">33361104</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33393407">Ocular manifestations and surgical interventions in pediatric patients with Koolen-de-Vries syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prat D,
|
||
Katowitz WR,
|
||
Strong A,
|
||
Katowitz JA</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2021 Apr;42(2):186-188.
|
||
Epub 2021 Jan 3
|
||
doi: 10.1080/13816810.2020.1868012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33393407" target="_blank">33393407</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31125459">Atypical Café-au-Lait Macules in a Patient with Koolen-de Vries Syndrome (17q21.31 Microdeletion Syndrome).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Han AM,
|
||
Kusari A,
|
||
Soeprono F,
|
||
Eichenfield LF</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2019 Jul;36(4):e97-e98.
|
||
Epub 2019 May 24
|
||
doi: 10.1111/pde.13849.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31125459" target="_blank">31125459</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28440867">The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Myers KA,
|
||
Mandelstam SA,
|
||
Ramantani G,
|
||
Rushing EJ,
|
||
de Vries BB,
|
||
Koolen DA,
|
||
Scheffer IE</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2017 Jun;58(6):1085-1094.
|
||
Epub 2017 Apr 25
|
||
doi: 10.1111/epi.13746.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28440867" target="_blank">28440867</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Koolen-de%20Vries%20syndrome%20due%20to%2017q21.31%20microdeletion%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 (10)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37053206">The clinical phenotype of Koolen-de Vries syndrome in Turkish patients and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karamik G,
|
||
Tuysuz B,
|
||
Isik E,
|
||
Yilmaz A,
|
||
Alanay Y,
|
||
Sunamak EC,
|
||
Durmusalioglu EA,
|
||
Ozkinay F,
|
||
Cetin GO,
|
||
Ozturk N,
|
||
Mihci E,
|
||
Nur B</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2023 Jul;191(7):1814-1825.
|
||
Epub 2023 Apr 13
|
||
doi: 10.1002/ajmg.a.63207.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37053206" target="_blank">37053206</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35045017">Novel antenatal presentation of cystic hygroma in a case of Koolen-de Vries syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oakley-Hannibal E,
|
||
Tyagi V,
|
||
Das S,
|
||
Wakeling E,
|
||
Gardham A</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2022 Apr 1;31(2):106-108.
|
||
doi: 10.1097/MCD.0000000000000410.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35045017" target="_blank">35045017</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33361104">Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amenta S,
|
||
Frangella S,
|
||
Marangi G,
|
||
Lattante S,
|
||
Ricciardi S,
|
||
Doronzio PN,
|
||
Orteschi D,
|
||
Veredice C,
|
||
Contaldo I,
|
||
Zampino G,
|
||
Gentile M,
|
||
Scarano E,
|
||
Graziano C,
|
||
Zollino M</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2022 Feb;59(2):189-195.
|
||
Epub 2020 Dec 24
|
||
doi: 10.1136/jmedgenet-2020-107225.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33361104" target="_blank">33361104</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33603161">Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dingemans AJM,
|
||
Stremmelaar DE,
|
||
van der Donk R,
|
||
Vissers LELM,
|
||
Koolen DA,
|
||
Rump P,
|
||
Hehir-Kwa JY,
|
||
de Vries BBA</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2021 Sep;29(9):1418-1423.
|
||
Epub 2021 Feb 18
|
||
doi: 10.1038/s41431-021-00824-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33603161" target="_blank">33603161</a><a href="/pmc/articles/PMC8440607" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31125459">Atypical Café-au-Lait Macules in a Patient with Koolen-de Vries Syndrome (17q21.31 Microdeletion Syndrome).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Han AM,
|
||
Kusari A,
|
||
Soeprono F,
|
||
Eichenfield LF</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2019 Jul;36(4):e97-e98.
|
||
Epub 2019 May 24
|
||
doi: 10.1111/pde.13849.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31125459" target="_blank">31125459</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Koolen-de%20Vries%20syndrome%20due%20to%2017q21.31%20microdeletion%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 (29)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35177641">Kansl1 haploinsufficiency impairs autophagosome-lysosome fusion and links autophagic dysfunction with Koolen-de Vries syndrome in mice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li T,
|
||
Lu D,
|
||
Yao C,
|
||
Li T,
|
||
Dong H,
|
||
Li Z,
|
||
Xu G,
|
||
Chen J,
|
||
Zhang H,
|
||
Yi X,
|
||
Zhu H,
|
||
Liu G,
|
||
Wen K,
|
||
Zhao H,
|
||
Gao J,
|
||
Zhang Y,
|
||
Han Q,
|
||
Li T,
|
||
Zhang W,
|
||
Zhao J,
|
||
Li T,
|
||
Bai Z,
|
||
Song M,
|
||
He X,
|
||
Zhou T,
|
||
Xia Q,
|
||
Li A,
|
||
Pan X</span><br />
|
||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2022 Feb 17;13(1):931.
|
||
doi: 10.1038/s41467-022-28613-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35177641" target="_blank">35177641</a><a href="/pmc/articles/PMC8854428" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31250568">Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Woodfin T,
|
||
Stoops C,
|
||
Philips JB 3rd,
|
||
Lose E,
|
||
Mikhail FM,
|
||
Hurst A</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2019 Aug;7(8):e829.
|
||
Epub 2019 Jun 28
|
||
doi: 10.1002/mgg3.829.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31250568" target="_blank">31250568</a><a href="/pmc/articles/PMC6687649" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28440867">The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Myers KA,
|
||
Mandelstam SA,
|
||
Ramantani G,
|
||
Rushing EJ,
|
||
de Vries BB,
|
||
Koolen DA,
|
||
Scheffer IE</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2017 Jun;58(6):1085-1094.
|
||
Epub 2017 Apr 25
|
||
doi: 10.1111/epi.13746.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28440867" target="_blank">28440867</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Koolen-de%20Vries%20syndrome%20due%20to%2017q21.31%20microdeletion%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33361104">Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amenta S,
|
||
Frangella S,
|
||
Marangi G,
|
||
Lattante S,
|
||
Ricciardi S,
|
||
Doronzio PN,
|
||
Orteschi D,
|
||
Veredice C,
|
||
Contaldo I,
|
||
Zampino G,
|
||
Gentile M,
|
||
Scarano E,
|
||
Graziano C,
|
||
Zollino M</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2022 Feb;59(2):189-195.
|
||
Epub 2020 Dec 24
|
||
doi: 10.1136/jmedgenet-2020-107225.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33361104" target="_blank">33361104</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33393407">Ocular manifestations and surgical interventions in pediatric patients with Koolen-de-Vries syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prat D,
|
||
Katowitz WR,
|
||
Strong A,
|
||
Katowitz JA</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2021 Apr;42(2):186-188.
|
||
Epub 2021 Jan 3
|
||
doi: 10.1080/13816810.2020.1868012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33393407" target="_blank">33393407</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31250568">Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Woodfin T,
|
||
Stoops C,
|
||
Philips JB 3rd,
|
||
Lose E,
|
||
Mikhail FM,
|
||
Hurst A</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2019 Aug;7(8):e829.
|
||
Epub 2019 Jun 28
|
||
doi: 10.1002/mgg3.829.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31250568" target="_blank">31250568</a><a href="/pmc/articles/PMC6687649" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31125459">Atypical Café-au-Lait Macules in a Patient with Koolen-de Vries Syndrome (17q21.31 Microdeletion Syndrome).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Han AM,
|
||
Kusari A,
|
||
Soeprono F,
|
||
Eichenfield LF</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2019 Jul;36(4):e97-e98.
|
||
Epub 2019 May 24
|
||
doi: 10.1111/pde.13849.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31125459" target="_blank">31125459</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27852077">Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ciaccio C,
|
||
Dordoni C,
|
||
Ritelli M,
|
||
Colombi M</span><br />
|
||
<span class="medgenPMjournal">Cytogenet Genome Res</span>
|
||
2016;150(1):40-45.
|
||
Epub 2016 Nov 17
|
||
doi: 10.1159/000452724.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27852077" target="_blank">27852077</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Koolen-de%20Vries%20syndrome%20due%20to%2017q21.31%20microdeletion%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 (7)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36104871">Next-generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen-de Vries syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brand F,
|
||
Vijayananth A,
|
||
Hsieh TC,
|
||
Schmidt A,
|
||
Peters S,
|
||
Mangold E,
|
||
Cremer K,
|
||
Bender T,
|
||
Sivalingam S,
|
||
Hundertmark H,
|
||
Knaus A,
|
||
Engels H,
|
||
Krawitz PM,
|
||
Perne C</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2022 Nov;43(11):1659-1665.
|
||
Epub 2022 Oct 2
|
||
doi: 10.1002/humu.24467.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36104871" target="_blank">36104871</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33361104">Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amenta S,
|
||
Frangella S,
|
||
Marangi G,
|
||
Lattante S,
|
||
Ricciardi S,
|
||
Doronzio PN,
|
||
Orteschi D,
|
||
Veredice C,
|
||
Contaldo I,
|
||
Zampino G,
|
||
Gentile M,
|
||
Scarano E,
|
||
Graziano C,
|
||
Zollino M</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2022 Feb;59(2):189-195.
|
||
Epub 2020 Dec 24
|
||
doi: 10.1136/jmedgenet-2020-107225.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33361104" target="_blank">33361104</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33314579">Koolen-de Vries syndrome in the first adulthood patient of Southern India ancestry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pascolini G,
|
||
Gaudioso F,
|
||
Fadda MT,
|
||
Laino L,
|
||
Ferraris A,
|
||
Grammatico P</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2021 Mar;185(3):978-981.
|
||
Epub 2020 Dec 12
|
||
doi: 10.1002/ajmg.a.62006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33314579" target="_blank">33314579</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28440867">The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Myers KA,
|
||
Mandelstam SA,
|
||
Ramantani G,
|
||
Rushing EJ,
|
||
de Vries BB,
|
||
Koolen DA,
|
||
Scheffer IE</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2017 Jun;58(6):1085-1094.
|
||
Epub 2017 Apr 25
|
||
doi: 10.1111/epi.13746.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28440867" target="_blank">28440867</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27852077">Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ciaccio C,
|
||
Dordoni C,
|
||
Ritelli M,
|
||
Colombi M</span><br />
|
||
<span class="medgenPMjournal">Cytogenet Genome Res</span>
|
||
2016;150(1):40-45.
|
||
Epub 2016 Nov 17
|
||
doi: 10.1159/000452724.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27852077" target="_blank">27852077</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Koolen-de%20Vries%20syndrome%20due%20to%2017q21.31%20microdeletion%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 (9)</a></div></div>
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