Please use this identifier to cite or link to this item: https://hdl.handle.net/11499/7845
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dc.contributor.authorShaaban, S.-
dc.contributor.authorDüzcan, Füsun-
dc.contributor.authorYildirim, C.-
dc.contributor.authorChan, W.-M.-
dc.contributor.authorAndrews, C.-
dc.contributor.authorAkarsu, N.A.-
dc.contributor.authorEngle, E.C.-
dc.date.accessioned2019-08-16T12:32:45Z
dc.date.available2019-08-16T12:32:45Z
dc.date.issued2014-
dc.identifier.issn0009-9163-
dc.identifier.urihttps://hdl.handle.net/11499/7845-
dc.identifier.urihttps://doi.org/10.1111/cge.12224-
dc.description.abstractUsing a combination of homozygosity mapping and whole-exome sequencing (WES), we identified a novel missense c.1819G>A mutation (G607S) in the endothelin-converting enzyme-like 1 (ECEL1) gene in a consanguineous pedigree of Turkish origin presenting with a syndrome of camptodactyly, scoliosis, limited knee flexion, significant refractive errors and ophthalmoplegia. ECEL1 mutations were recently reported to cause recessive forms of distal arthrogryposis. This report expands on the molecular basis and the phenotypic spectrum of ECEL1-associated congenital contracture syndromes. © 2013 John Wiley & Sons A/S.en_US
dc.language.isoenen_US
dc.publisherBlackwell Publishing Ltden_US
dc.relation.ispartofClinical Geneticsen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectArthrogryposisen_US
dc.subjectCamptodactylyen_US
dc.subjectContracturesen_US
dc.subjectOphthalmoplegiaen_US
dc.subjectendothelin converting enzymeen_US
dc.subjectECEL1 protein, humanen_US
dc.subjectmetalloproteinaseen_US
dc.subjectadulten_US
dc.subjectarthrogryposisen_US
dc.subjectarticleen_US
dc.subjectastigmatismen_US
dc.subjectcamptodactylyen_US
dc.subjectchilden_US
dc.subjectclinical articleen_US
dc.subjectfemaleen_US
dc.subjectflexion contractureen_US
dc.subjectgene sequenceen_US
dc.subjectgenetic analysisen_US
dc.subjecthomozygosityen_US
dc.subjecthumanen_US
dc.subjectknee functionen_US
dc.subjectmaleen_US
dc.subjectmissense mutationen_US
dc.subjectophthalmoplegiaen_US
dc.subjectpriority journalen_US
dc.subjectptosisen_US
dc.subjectrefraction erroren_US
dc.subjectscoliosisen_US
dc.subjectconsanguinityen_US
dc.subjectDNA sequenceen_US
dc.subjectexomeen_US
dc.subjectgeneticsen_US
dc.subjectgenotypeen_US
dc.subjecthomozygoteen_US
dc.subjectpathologyen_US
dc.subjectpedigreeen_US
dc.subjectphenotypeen_US
dc.subjectTurkeyen_US
dc.subjectAdulten_US
dc.subjectConsanguinityen_US
dc.subjectExomeen_US
dc.subjectFemaleen_US
dc.subjectGenotypeen_US
dc.subjectHomozygoteen_US
dc.subjectHumansen_US
dc.subjectMaleen_US
dc.subjectMetalloendopeptidasesen_US
dc.subjectMutation, Missenseen_US
dc.subjectPedigreeen_US
dc.subjectPhenotypeen_US
dc.subjectSequence Analysis, DNAen_US
dc.titleExpanding the phenotypic spectrum of ECEL1-related congenital contracture syndromesen_US
dc.typeArticleen_US
dc.identifier.volume85en_US
dc.identifier.issue6en_US
dc.identifier.startpage562
dc.identifier.startpage562en_US
dc.identifier.endpage567en_US
dc.authorid0000-0002-3973-1404-
dc.identifier.doi10.1111/cge.12224-
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.identifier.pmid23808592en_US
dc.identifier.scopus2-s2.0-84899484124en_US
dc.identifier.wosWOS:000334908000011en_US
dc.identifier.scopusqualityQ1-
dc.ownerPamukkale University-
item.grantfulltextopen-
item.languageiso639-1en-
item.fulltextWith Fulltext-
item.openairetypeArticle-
item.cerifentitytypePublications-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
crisitem.author.dept14.02. Internal Medicine-
Appears in Collections:PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
Tıp Fakültesi Koleksiyonu
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection
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