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<meta name="keywords" content="C4693531, disease or syndrome, gdf6, multiple synostoses syndrome 4, syns4, 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="Multiple synostoses syndrome-4 is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss (Terhal et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of multiple synostoses syndrome, see SYNS1 (186500)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1638842
|
||
ConceptID=C4693531
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Multiple synostoses syndrome 4<span class="h1sub">(SYNS4)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1638842</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:">C4693531</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>MULTIPLE SYNOSTOSES SYNDROME 4; SYNS4</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="GDF6 - ID: 392255 - NCBI Gene" href="/gene/392255" class="medgenPMinfo">GDF6</a> (8q22.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0054752" target="_blank">MONDO:0054752</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617898" target="_blank">617898</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">Multiple synostoses syndrome-4 is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss (Terhal et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of multiple synostoses syndrome, see SYNS1 (186500). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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</div>
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||
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_42034"><div><strong>Pes planus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42034</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.">C0016202</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42034">Feature record</a> | <a href="/medgen?term=%22Pes%20planus%22%5BClinical%20Features%5D%20OR%2042034%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_67454"><div><strong>Brachydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67454</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.">C0221357</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67454">Feature record</a> | <a href="/medgen?term=%22Brachydactyly%22%5BClinical%20Features%5D%20OR%2067454%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_182531"><div><strong>Overlapping toe</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>182531</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.">C0920299</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/182531">Feature record</a> | <a href="/medgen?term=%22Overlapping%20toe%22%5BClinical%20Features%5D%20OR%20182531%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_356187"><div><strong>Broad foot</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356187</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.">C1866241</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356187">Feature record</a> | <a href="/medgen?term=%22Broad%20foot%22%5BClinical%20Features%5D%20OR%20356187%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10508"><div><strong>Otosclerosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10508</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.">C0029899</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Clinical otosclerosis, the single most common cause of hearing impairment, is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule. Otosclerotic foci invade the stapediovestibular joint (oval window) and interfere with free motion of the stapes. Mean age of onset is in the third decade and 90% of affected persons are under 50 years of age at the time of diagnosis. Approximately 10% of affected persons develop profound sensorineural hearing loss across all frequencies (summary by Tomek et al., 1998). Genetic Heterogeneity of Otosclerosis The locus associated with otosclerosis-1 (OTSC1) has been mapped to chromosome 15q26.1. Other loci associated with otosclerosis include OTSC2 (605727) on chromosome 7q; OTSC3 (608244) on chromosome 6p; OTSC4 (611571) on chromosome 16q; OTSC5 (608787) on chromosome 3q22-q24; OTSC7 (611572) on chromosome 6q13; OTSC8 (612096) on chromosome 9p13.1-q21.11; and OTSC10 (615589) on chromosome 1q41-q44. OTSC11 (620576) is caused by mutation in the FOXL1 gene (603252) on chromosome 16q24. OTSC12 (620792) is caused by mutation in the SMARCA4 gene (603254) on chromosome 19p13. The symbols OTSC6 and OTSC9 were reserved by the HUGO Gene Nomenclature Committee on January 30, 2003 and February 10, 2009, respectively, for as yet unpublished loci for otosclerosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10508">Feature record</a> | <a href="/medgen?term=%22Otosclerosis%22%5BClinical%20Features%5D%20OR%2010508%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_539393"><div><strong>Tarsal synostosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>539393</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.">C0265654</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/539393">Feature record</a> | <a href="/medgen?term=%22Tarsal%20synostosis%22%5BClinical%20Features%5D%20OR%20539393%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_67454" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brachydactyly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_356187" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Broad foot</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_182531" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Overlapping toe</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42034" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pes planus</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_539393" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tarsal synostosis</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10508" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Otosclerosis</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="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/511579" ref="tree=GTR&ncbi_uid=511579&link_uid=511579" title="View MedGen record for 'Multiple synostosis syndrome'">Multiple synostosis syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832708[DISCUI]&test_type=Clinical" ref="ncbi_uid=331348">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=331348" target="_blank" href="/omim/601146">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=331348" ref="ncbi_uid=331348">V</a></span></span><span class="TLline"><a href="/medgen/331348" ref="tree=GTR&ncbi_uid=331348&link_uid=331348" title="View MedGen record for 'Multiple synostoses syndrome 2'">Multiple synostoses syndrome 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2751826[DISCUI]&test_type=Clinical" ref="ncbi_uid=414116">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=414116" target="_blank" href="/omim/600921">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=414116" ref="ncbi_uid=414116">V</a></span></span><span class="TLline"><a href="/medgen/414116" ref="tree=GTR&ncbi_uid=414116&link_uid=414116" title="View MedGen record for 'Multiple synostoses syndrome 3'">Multiple synostoses syndrome 3</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4693531[DISCUI]&test_type=Clinical" ref="ncbi_uid=1638842">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1638842" target="_blank" href="/omim/601147">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1638842" ref="ncbi_uid=1638842">V</a></span></span><span class="TLline">Multiple synostoses syndrome 4</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0342282[DISCUI]&test_type=Clinical" ref="ncbi_uid=90977">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=90977" target="_blank" href="/omim/186500">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=90977" ref="ncbi_uid=90977">V</a></span></span><span class="TLline"><a href="/medgen/90977" ref="tree=GTR&ncbi_uid=90977&link_uid=90977" title="View MedGen record for 'Symphalangism-brachydactyly syndrome'">Symphalangism-brachydactyly syndrome</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/1842759" ref="tree=MeSH" title="MedGen record for Syndrome with synostosis or other joint formation defect">Syndrome with synostosis or other joint formation defect</a></span><ul><li><span class="TLline"><a href="/medgen/511579" ref="tree=MeSH" title="MedGen record for Multiple synostosis syndrome">Multiple synostosis syndrome</a></span><ul><li><span class="matched_ds">Multiple synostoses syndrome 4</span></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36720214">Practical Algorithm for the Management of Multisutural Craniosynostosis with Associated Chiari Malformation and/or Hydrocephalus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aruta G,
|
||
Fiaschi P,
|
||
Ceraudo M,
|
||
Piatelli G,
|
||
Capra V,
|
||
Bianconi A,
|
||
Rossi A,
|
||
Secci F,
|
||
Pavanello M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurosurg</span>
|
||
2023;58(2):67-79.
|
||
Epub 2023 Jan 31
|
||
doi: 10.1159/000529129.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36720214" target="_blank">36720214</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21538686">A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Potti TA,
|
||
Petty EM,
|
||
Lesperance MM</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2011 Aug;32(8):877-86.
|
||
Epub 2011 Jun 21
|
||
doi: 10.1002/humu.21515.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21538686" target="_blank">21538686</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21307714">Surgical treatment for scoliosis in patients with Shprintzen-Goldberg syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Watanabe K,
|
||
Okada E,
|
||
Kosaki K,
|
||
Tsuji T,
|
||
Ishii K,
|
||
Nakamura M,
|
||
Chiba K,
|
||
Toyama Y,
|
||
Matsumoto M</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop</span>
|
||
2011 Mar;31(2):186-93.
|
||
doi: 10.1097/BPO.0b013e3182093da5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21307714" target="_blank">21307714</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(multiple%20synostoses%20syndrome%204)%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/36744814">Defective Joint Development and Maintenance in GDF6-Related Multiple Synostoses Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yu T,
|
||
Li G,
|
||
Wang C,
|
||
Li N,
|
||
Yao R,
|
||
Wang J</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2023 Apr;38(4):568-577.
|
||
Epub 2023 Feb 20
|
||
doi: 10.1002/jbmr.4785.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36744814" target="_blank">36744814</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34334433">Multiple synostoses syndrome: Radiological findings and orthopedic management in a single institution cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Tienda M,
|
||
Bouthors C,
|
||
Pejin Z,
|
||
Glorion C,
|
||
Wicart P</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Rehabil Med</span>
|
||
2021;14(3):361-369.
|
||
doi: 10.3233/PRM-200702.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34334433" target="_blank">34334433</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25350344">Progressive Postnatal Pansynostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rogers GF,
|
||
Greene AK,
|
||
Proctor MR,
|
||
Mulliken JB,
|
||
Goobie SM,
|
||
Stoler JM</span><br />
|
||
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
|
||
2015 Nov;52(6):751-7.
|
||
Epub 2014 Oct 28
|
||
doi: 10.1597/14-092.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25350344" target="_blank">25350344</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12846610">Shprintzen-Goldberg syndrome: case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Topouzelis N,
|
||
Markovitsi E,
|
||
Antoniades K</span><br />
|
||
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
|
||
2003 Jul;40(4):433-6.
|
||
doi: 10.1597/1545-1569_2003_040_0433_sscr_2.0.co_2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12846610" target="_blank">12846610</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2839541">Congenital constriction band syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Askins G,
|
||
Ger E</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop</span>
|
||
1988 Jul-Aug;8(4):461-6.
|
||
doi: 10.1097/01241398-198807000-00016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2839541" target="_blank">2839541</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20synostoses%20syndrome%204%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 (89)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27884935">Diagnostic value of exome and whole genome sequencing in craniosynostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miller KA,
|
||
Twigg SR,
|
||
McGowan SJ,
|
||
Phipps JM,
|
||
Fenwick AL,
|
||
Johnson D,
|
||
Wall SA,
|
||
Noons P,
|
||
Rees KE,
|
||
Tidey EA,
|
||
Craft J,
|
||
Taylor J,
|
||
Taylor JC,
|
||
Goos JA,
|
||
Swagemakers SM,
|
||
Mathijssen IM,
|
||
van der Spek PJ,
|
||
Lord H,
|
||
Lester T,
|
||
Abid N,
|
||
Cilliers D,
|
||
Hurst JA,
|
||
Morton JE,
|
||
Sweeney E,
|
||
Weber A,
|
||
Wilson LC,
|
||
Wilkie AO</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2017 Apr;54(4):260-268.
|
||
Epub 2016 Nov 24
|
||
doi: 10.1136/jmedgenet-2016-104215.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27884935" target="_blank">27884935</a><a href="/pmc/articles/PMC5366069" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26622922">Prenatal Diagnosis of Nasal Glioma Associated with Metopic Craniosynostosis: Case Report and Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boyer AC,
|
||
Krishnan A,
|
||
Goncalves LF,
|
||
Williams L,
|
||
Chaiyasate K</span><br />
|
||
<span class="medgenPMjournal">J Radiol Case Rep</span>
|
||
2015 Apr;9(4):1-8.
|
||
Epub 2015 Apr 30
|
||
doi: 10.3941/jrcr.v9i4.2179.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26622922" target="_blank">26622922</a><a href="/pmc/articles/PMC4638364" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25350344">Progressive Postnatal Pansynostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rogers GF,
|
||
Greene AK,
|
||
Proctor MR,
|
||
Mulliken JB,
|
||
Goobie SM,
|
||
Stoler JM</span><br />
|
||
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
|
||
2015 Nov;52(6):751-7.
|
||
Epub 2014 Oct 28
|
||
doi: 10.1597/14-092.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25350344" target="_blank">25350344</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8591673">Polysyndactyly and asymptomatic hypothalamic hamartoma in mother and son: a variant of Pallister-Hall syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Löw M,
|
||
Moringlane JR,
|
||
Reif J,
|
||
Barbier D,
|
||
Beige G,
|
||
Kolles H,
|
||
Kujat C,
|
||
Zang KD,
|
||
Henn W</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
1995 Oct;48(4):209-12.
|
||
doi: 10.1111/j.1399-0004.1995.tb04090.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8591673" target="_blank">8591673</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7996504">Fraser syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chattopadhyay A,
|
||
Kher AS,
|
||
Udwadia AD,
|
||
Sharma SV,
|
||
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<div class="portlet_content ln"><span class="medgenPMauthor">Saengthong P,
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<div class="nl"><a target="_blank" href="/pubmed/12523552">New insights into craniosynostosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Flores-Sarnat L</span><br />
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<div class="portlet_content ln"><span class="medgenPMauthor">Polley JW,
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<div class="nl"><a target="_blank" href="/pubmed/712761">Linkage analysis in dominant acrocephalosyndactyly.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20synostoses%20syndrome%204%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 (65)</a></div></div>
|
||
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|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/34863645">Morbidity Associated With Anterior Versus Posterior Cranial Vault Expansion for Early Treatment of Syndromic Craniosynostosis: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Richardson IJ,
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Wager LE,
|
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Recker MJ,
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Reynolds R,
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Ruiz R,
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Markiewicz MR</span><br />
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<span class="medgenPMjournal">J Oral Maxillofac Surg</span>
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2022 Apr;80(4):651-661.
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Epub 2021 Nov 13
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doi: 10.1016/j.joms.2021.10.022.
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<span class="bold">PMID: </span><a href="/pubmed/34863645" target="_blank">34863645</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30997567">Adenotonsillectomy in children with syndromic craniosynostosis: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saengthong P,
|
||
Chaitusaney B,
|
||
Hirunwiwatkul P,
|
||
Charakorn N</span><br />
|
||
<span class="medgenPMjournal">Eur Arch Otorhinolaryngol</span>
|
||
2019 Jun;276(6):1555-1560.
|
||
Epub 2019 Apr 17
|
||
doi: 10.1007/s00405-019-05427-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30997567" target="_blank">30997567</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25929968">Intracranial hypertension after surgical correction for craniosynostosis: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Christian EA,
|
||
Imahiyerobo TA,
|
||
Nallapa S,
|
||
Urata M,
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McComb JG,
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Krieger MD</span><br />
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<span class="medgenPMjournal">Neurosurg Focus</span>
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<span class="bold">PMID: </span><a href="/pubmed/25929968" target="_blank">25929968</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20synostoses%20syndrome%204%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 (3)</a></div></div>
|
||
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|
||
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|
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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=C4693531%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C4693531%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C4693531%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=C4693531%5bDISCUI%5d" target="_blank">See all (5)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=617898" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Multiple%20synostoses%20syndrome%204" target="_blank">ClinicalTrials.gov</a></li></ul></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=(multiple%20synostoses%20syndrome%204)%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Multiple%20synostoses%20syndrome%204%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. 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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<a href="/pubmed/clinical?term=Multiple%20synostoses%20syndrome%204" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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Clear
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc44c0b15b832ebc7bd601">Multiple synostoses syndrome 4</a>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cc44bef4a390645ec56ad7">C4693531[conceptid] <span class="number">(1)</span></a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cc44bdf4a390645ec56716">C1832708[trait identifier] AND "Fulgent Genetics, Fulgent Genetic... <span class="number">(1)</span></a>
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<div class="ralinkpop offscreen_noflow">C1832708[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cc44bc84f3725e59bff6c2">C0268263[trait identifier] AND "Fulgent Genetics, Fulgent Genetic... <span class="number">(33)</span></a>
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<div class="ralinkpop offscreen_noflow">C0268263[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cc44bb84f3725e59bff04e">C0546476[trait identifier] AND "Fulgent Genetics, Fulgent Genetic... <span class="number">(22)</span></a>
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<div class="ralinkpop offscreen_noflow">C0546476[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">ClinVar</div>
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