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<meta name="keywords" content="C1275078, acps ii, acps2, acrocephalopolysyndactyly type 2, acrocephalopolysyndactyly type ii, acrocephalosyndactyly, type ii, carpenter 's syndrome, carpenter syndrome, disease or syndrome, type ii acrocephalopolysyndactyly, 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="Carpenter syndrome (CRPT) is a rare autosomal recessive disorder with the cardinal features of acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; impaired intellectual development; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed (summary by Altunhan et al., 2011). Genetic Heterogeneity of Carpenter Syndrome Carpenter syndrome-2 (CRPT2; 614976), in which the features of Carpenter syndrome are sometimes associated with defective lateralization, is caused by mutation in the MEGF8 gene (604267)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=226897
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ConceptID=C1275078
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Carpenter syndrome</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>226897</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:">C1275078</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>ACPS II; Acrocephalopolysyndactyly Type II; Carpenter Syndrome</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Acrocephalopolysyndactyly type II (403767009); Carpenter syndrome (403767009); Acrocephalopolysyndactyly type 2 (403767009)</td></tr>
|
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<tr><td>Modes of inheritance:</td>
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<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive 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:0019012" target="_blank">MONDO:0019012</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/201000" target="_blank">201000</a>; <a href="https://omim.org/entry/606144" target="_blank">606144</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS201000" target="_blank">PS201000</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=65759">ORPHA65759</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>
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<div class="portlet_content ln">Carpenter syndrome (CRPT) is a rare autosomal recessive disorder with the cardinal features of acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; impaired intellectual development; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed (summary by Altunhan et al., 2011). Genetic Heterogeneity of Carpenter Syndrome Carpenter syndrome-2 (CRPT2; 614976), in which the features of Carpenter syndrome are sometimes associated with defective lateralization, is caused by mutation in the MEGF8 gene (604267). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems.<br /><br />Craniosynostosis prevents the skull from growing normally, frequently giving the head a pointed appearance (acrocephaly). In severely affected individuals, the abnormal fusion of the skull bones results in a deformity called a cloverleaf skull. Craniosynostosis can cause differences between the two sides of the head and face (craniofacial asymmetry). Early fusion of the skull bones can affect the development of the brain and lead to increased pressure within the skull (intracranial pressure). Premature fusion of the skull bones can cause several characteristic facial features in people with Carpenter syndrome. Distinctive facial features may include a flat nasal bridge, outside corners of the eyes that point downward (down-slanting palpebral fissures), low-set and abnormally shaped ears, underdeveloped upper and lower jaws, and abnormal eye shape. Some affected individuals also have dental abnormalities including small primary (baby) teeth. Vision problems also frequently occur.<br /><br />Abnormalities of the fingers and toes include fusion of the skin between two or more fingers or toes (cutaneous syndactyly), unusually short fingers or toes (brachydactyly), or extra fingers or toes (polydactyly). In Carpenter syndrome, cutaneous syndactyly is most common between the third (middle) and fourth (ring) fingers, and polydactyly frequently occurs next to the big or second toe or the fifth (pinky) finger.<br /><br />People with Carpenter syndrome often have intellectual disability, which can range from mild to profound. However, some individuals with this condition have normal intelligence. The cause of intellectual disability is unknown, as the severity of craniosynostosis does not appear to be related to the severity of intellectual disability.<br /><br />Other features of Carpenter syndrome include obesity that begins in childhood, a soft out-pouching around the belly-button (umbilical hernia), hearing loss, and heart defects. Additional skeletal abnormalities such as deformed hips, a rounded upper back that also curves to the side (kyphoscoliosis), and knees that are angled inward (genu valgum) frequently occur. Nearly all affected males have genital abnormalities, most frequently undescended testes (cryptorchidism).<br /><br />A few people with Carpenter syndrome have organs or tissues within their chest and abdomen that are in mirror-image reversed positions. This abnormal placement may affect several internal organs (situs inversus); just the heart (dextrocardia), placing the heart on the right side of the body instead of on the left; or only the major (great) arteries of the heart, altering blood flow.<br /><br />The signs and symptoms of Carpenter syndrome are similar to another genetic condition called Greig cephalopolysyndactyly syndrome. The overlapping features, which include craniosynostosis, polydactyly, and heart abnormalities, can cause these two conditions to be misdiagnosed; genetic testing is often required for an accurate diagnosis.<br /><br />The signs and symptoms of this disorder vary considerably, even within the same family. The life expectancy for individuals with Carpenter syndrome is shortened but extremely variable. <a target="_blank" href="https://medlineplus.gov/genetics/condition/carpenter-syndrome">https://medlineplus.gov/genetics/condition/carpenter-syndrome</a></div></div>
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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><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=C1275078[DISCUI]&test_type=Clinical" ref="ncbi_uid=226897">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=226897" target="_blank" href="/omim/201000">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=226897" ref="ncbi_uid=226897">V</a></span></span><span class="TLline">Carpenter syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/267602" ref="tree=MeSH" title="MedGen record for Acrocephalosyndactyly">Acrocephalosyndactyly</a></span><ul><li><span class="matched_ds">Carpenter syndrome</span></li></ul></li></ul></li></ul></li></ul></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=10879&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Carpenter 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/26914936">Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rubio EI,
|
||
Blask A,
|
||
Bulas DI</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
2016 May;46(5):709-18.
|
||
Epub 2016 Feb 25
|
||
doi: 10.1007/s00247-016-3550-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26914936" target="_blank">26914936</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22carpenter%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 (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/35681434">Distinct Synaptic Vesicle Proteomic Signatures Associated with Pre- and Post-Natal Oxycodone-Exposure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Odegaard KE,
|
||
Gallegos G,
|
||
Koul S,
|
||
Schaal VL,
|
||
Vellichirammal NN,
|
||
Guda C,
|
||
Dutoit AP,
|
||
Lisco SJ,
|
||
Yelamanchili SV,
|
||
Pendyala G</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2022 May 25;11(11)
|
||
doi: 10.3390/cells11111740.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35681434" target="_blank">35681434</a><a href="/pmc/articles/PMC9179517" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23624130">Thyroid autoimmunity and polyglandular endocrine syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wémeau JL,
|
||
Proust-Lemoine E,
|
||
Ryndak A,
|
||
Vanhove L</span><br />
|
||
<span class="medgenPMjournal">Hormones (Athens)</span>
|
||
2013 Jan-Mar;12(1):39-45.
|
||
doi: 10.1007/BF03401285.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23624130" target="_blank">23624130</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21412941">Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jenkins D,
|
||
Baynam G,
|
||
De Catte L,
|
||
Elcioglu N,
|
||
Gabbett MT,
|
||
Hudgins L,
|
||
Hurst JA,
|
||
Jehee FS,
|
||
Oley C,
|
||
Wilkie AO</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2011 Apr;32(4):E2069-78.
|
||
Epub 2011 Feb 8
|
||
doi: 10.1002/humu.21457.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21412941" target="_blank">21412941</a><a href="/pmc/articles/PMC3429868" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19165041">Carpenter syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hidestrand P,
|
||
Vasconez H,
|
||
Cottrill C</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2009 Jan;20(1):254-6.
|
||
doi: 10.1097/SCS.0b013e318184357a.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19165041" target="_blank">19165041</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18435847">The Greig cephalopolysyndactyly syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Biesecker LG</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2008 Apr 24;3:10.
|
||
doi: 10.1186/1750-1172-3-10.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18435847" target="_blank">18435847</a><a href="/pmc/articles/PMC2397380" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Carpenter%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 (14)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33368989">Carpenter syndrome in a patient from Tanzania.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lodhia J,
|
||
Rego-Garcia I,
|
||
Koipapi S,
|
||
Sadiq A,
|
||
Msuya D,
|
||
Spaendonk RV,
|
||
Hamel B,
|
||
Dekker M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2021 Mar;185(3):986-989.
|
||
Epub 2020 Dec 24
|
||
doi: 10.1002/ajmg.a.62015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33368989" target="_blank">33368989</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10842295">New case of Cole-Carpenter syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amor DJ,
|
||
Savarirayan R,
|
||
Schneider AS,
|
||
Bankier A</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
2000 Jun 5;92(4):273-7.
|
||
doi: 10.1002/(sici)1096-8628(20000605)92:4<273::aid-ajmg10>3.0.co;2-t.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10842295" target="_blank">10842295</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7837341">Prenatal sonographic diagnosis of Carpenter syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ashby T,
|
||
Rouse GA,
|
||
De Lange M</span><br />
|
||
<span class="medgenPMjournal">J Ultrasound Med</span>
|
||
1994 Nov;13(11):905-9.
|
||
doi: 10.7863/jum.1994.13.11.905.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7837341" target="_blank">7837341</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3144990">Craniosynostosis update 1987.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cohen MM Jr</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet Suppl</span>
|
||
1988;4:99-148.
|
||
doi: 10.1002/ajmg.1320310514.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3144990" target="_blank">3144990</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7270272">Carpenter syndrome with normal intelligence and precocious growth.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">White J,
|
||
Boldt DB,
|
||
David DJ,
|
||
Sheffield L,
|
||
Simpson DA</span><br />
|
||
<span class="medgenPMjournal">Acta Neurochir (Wien)</span>
|
||
1981;57(1-2):43-9.
|
||
doi: 10.1007/BF01665112.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7270272" target="_blank">7270272</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Carpenter%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 (33)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28593893">Trigonocephaly - Our Experience and Treatment in the Republic of Macedonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mircevsk V,
|
||
Zogovska E,
|
||
Chaparoski A,
|
||
Micunovic M,
|
||
Filipce V,
|
||
Mirchevski MM,
|
||
Kostov M,
|
||
Мicunovic L</span><br />
|
||
<span class="medgenPMjournal">Pril (Makedon Akad Nauk Umet Odd Med Nauki)</span>
|
||
2017 Mar 1;38(1):35-40.
|
||
doi: 10.1515/prilozi-2017-0004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28593893" target="_blank">28593893</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28345801">ZC4H2 deletions can cause severe phenotype in female carriers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zanzottera C,
|
||
Milani D,
|
||
Alfei E,
|
||
Rizzo A,
|
||
D'Arrigo S,
|
||
Esposito S,
|
||
Pantaleoni C</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2017 May;173(5):1358-1363.
|
||
Epub 2017 Mar 27
|
||
doi: 10.1002/ajmg.a.38155.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28345801" target="_blank">28345801</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Carpenter%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38760421">The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Watts LM,
|
||
Bertoli M,
|
||
Attie-Bitach T,
|
||
Roux N,
|
||
Rausell A,
|
||
Paschal CR,
|
||
Zambonin JL,
|
||
Curry CJ,
|
||
Martin B,
|
||
Tooze RS,
|
||
Hawkes L,
|
||
Kini U,
|
||
Twigg SRF,
|
||
Wilkie AOM</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2024 Jul;32(7):864-870.
|
||
Epub 2024 May 17
|
||
doi: 10.1038/s41431-024-01624-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38760421" target="_blank">38760421</a><a href="/pmc/articles/PMC11220001" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23624130">Thyroid autoimmunity and polyglandular endocrine syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wémeau JL,
|
||
Proust-Lemoine E,
|
||
Ryndak A,
|
||
Vanhove L</span><br />
|
||
<span class="medgenPMjournal">Hormones (Athens)</span>
|
||
2013 Jan-Mar;12(1):39-45.
|
||
doi: 10.1007/BF03401285.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23624130" target="_blank">23624130</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19924577">Sudden death in a child with Carpenter Syndrome. Case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramos JM,
|
||
Davis GJ,
|
||
Hunsaker JC 3rd,
|
||
Balko MG</span><br />
|
||
<span class="medgenPMjournal">Forensic Sci Med Pathol</span>
|
||
2009 Dec;5(4):313-7.
|
||
Epub 2009 Nov 19
|
||
doi: 10.1007/s12024-009-9128-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19924577" target="_blank">19924577</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19165041">Carpenter syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hidestrand P,
|
||
Vasconez H,
|
||
Cottrill C</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2009 Jan;20(1):254-6.
|
||
doi: 10.1097/SCS.0b013e318184357a.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19165041" target="_blank">19165041</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18435847">The Greig cephalopolysyndactyly syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Biesecker LG</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2008 Apr 24;3:10.
|
||
doi: 10.1186/1750-1172-3-10.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18435847" target="_blank">18435847</a><a href="/pmc/articles/PMC2397380" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Carpenter%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 (11)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35944997">Drosophila Homolog of the Human Carpenter Syndrome Linked Gene, MEGF8, Is Required for Synapse Development and Function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen S,
|
||
Venkatesan A,
|
||
Lin YQ,
|
||
Xie J,
|
||
Neely G,
|
||
Banerjee S,
|
||
Bhat MA</span><br />
|
||
<span class="medgenPMjournal">J Neurosci</span>
|
||
2022 Sep 14;42(37):7016-7030.
|
||
Epub 2022 Aug 9
|
||
doi: 10.1523/JNEUROSCI.0442-22.2022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35944997" target="_blank">35944997</a><a href="/pmc/articles/PMC9480877" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28593893">Trigonocephaly - Our Experience and Treatment in the Republic of Macedonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mircevsk V,
|
||
Zogovska E,
|
||
Chaparoski A,
|
||
Micunovic M,
|
||
Filipce V,
|
||
Mirchevski MM,
|
||
Kostov M,
|
||
Мicunovic L</span><br />
|
||
<span class="medgenPMjournal">Pril (Makedon Akad Nauk Umet Odd Med Nauki)</span>
|
||
2017 Mar 1;38(1):35-40.
|
||
doi: 10.1515/prilozi-2017-0004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28593893" target="_blank">28593893</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25168863">Prenatal findings in carpenter syndrome and a novel mutation in RAB23.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haye D,
|
||
Collet C,
|
||
Sembely-Taveau C,
|
||
Haddad G,
|
||
Denis C,
|
||
Soulé N,
|
||
Suc AL,
|
||
Listrat A,
|
||
Toutain A</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2014 Nov;164A(11):2926-30.
|
||
Epub 2014 Aug 28
|
||
doi: 10.1002/ajmg.a.36726.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25168863" target="_blank">25168863</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23624130">Thyroid autoimmunity and polyglandular endocrine syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wémeau JL,
|
||
Proust-Lemoine E,
|
||
Ryndak A,
|
||
Vanhove L</span><br />
|
||
<span class="medgenPMjournal">Hormones (Athens)</span>
|
||
2013 Jan-Mar;12(1):39-45.
|
||
doi: 10.1007/BF03401285.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23624130" target="_blank">23624130</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21412941">Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jenkins D,
|
||
Baynam G,
|
||
De Catte L,
|
||
Elcioglu N,
|
||
Gabbett MT,
|
||
Hudgins L,
|
||
Hurst JA,
|
||
Jehee FS,
|
||
Oley C,
|
||
Wilkie AO</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2011 Apr;32(4):E2069-78.
|
||
Epub 2011 Feb 8
|
||
doi: 10.1002/humu.21457.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21412941" target="_blank">21412941</a><a href="/pmc/articles/PMC3429868" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Carpenter%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 (17)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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|
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|
||
<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1275078%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (15)</a></li>
|
||
<li><a href="/gtr/tests?term=C1275078%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1275078%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C1275078%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (23)</a></li>
|
||
<li><a href="/gtr/tests?term=C1275078%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (6)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1275078%5bDISCUI%5d" target="_blank">See all (25)</a></total></li>
|
||
</ul></div>
|
||
</div>
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|
||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS201000" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=65759" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Carpenter%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
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|
||
<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22carpenter%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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|
||
|
||
<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Carpenter+Syndrome/1121" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/carpenter_syndrome_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Carpenter%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/carpenter-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/6003/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Carpenter%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Carpenter%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
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<h3>Related information</h3>
|
||
</div>
|
||
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|
||
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|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=226897" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1275078[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1275078[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=226897" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=226897" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=226897" ref="log$=recordlinks">PMC Articles</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
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|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=226897" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=226897" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
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|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ca6d42a68b6b5afc7335cf">Carpenter syndrome</a>
|
||
<div class="ralinkpop offscreen_noflow">Carpenter syndrome<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67ca6d40a68b6b5afc732c22">C0342790[trait identifier] AND "Labcorp Genetics (formerly Invita... <span class="number">(899)</span></a>
|
||
<div class="ralinkpop offscreen_noflow">C0342790[trait identifier] AND "Labcorp Genetics (formerly Invitae), Labcorp"[submitter]<div class="brieflinkpopdesc">Search</div></div>
|
||
<div class="tertiary">ClinVar</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67ca6d4084f3725e593583fe">C1275078[conceptid] <span class="number">(1)</span></a>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67ca6d3fb15b832ebc08504a">Carnitine palmitoyltransferase II deficiency</a>
|
||
<div class="ralinkpop offscreen_noflow">Carnitine palmitoyltransferase II deficiency<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
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