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dc.contributor.author여창열*
dc.date.accessioned2016-08-28T11:08:15Z-
dc.date.available2016-08-28T11:08:15Z-
dc.date.issued2013*
dc.identifier.issn1552-4825*
dc.identifier.otherOAK-10765*
dc.identifier.urihttps://dspace.ewha.ac.kr/handle/2015.oak/227288-
dc.description.abstractThe transforming growth factor β (TGF-β) family of growth factors are key regulators of mammalian development and their dysregulation is implicated in human disease, notably, heritable vasculopathies including Marfan (MFS, OMIM #154700) and Loeys-Dietz syndromes (LDS, OMIM #609192). We described a syndrome presenting at birth with distal arthrogryposis, hypotonia, bifid uvula, a failure of normal post-natal muscle development but no evidence of vascular disease; some of these features overlap with MFS and LDS. A de novo mutation in TGFB3 was identified by exome sequencing. Several lines of evidence indicate the mutation is hypomorphic suggesting that decreased TGF-β signaling from a loss of TGFB3 activity is likely responsible for the clinical phenotype. This is the first example of a mutation in the coding portion of TGFB3 implicated in a clinical syndrome suggesting TGFB3 is essential for both human palatogenesis and normal muscle growth. © 2013 Wiley Periodicals, Inc.*
dc.languageEnglish*
dc.titleA mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with marfan and loeys-dietz syndrome*
dc.typeArticle*
dc.relation.issue8*
dc.relation.volume161*
dc.relation.indexSCI*
dc.relation.indexSCIE*
dc.relation.indexSCOPUS*
dc.relation.startpage2040*
dc.relation.lastpage2046*
dc.relation.journaltitleAmerican Journal of Medical Genetics, Part A*
dc.identifier.doi10.1002/ajmg.a.36056*
dc.identifier.wosidWOS:000327789600031*
dc.identifier.scopusid2-s2.0-84880722389*
dc.author.googleRienhoff H.Y.*
dc.author.googleYeo C.-Y.*
dc.author.googleMorissette R.*
dc.author.googleKhrebtukova I.*
dc.author.googleMelnick J.*
dc.author.googleLuo S.*
dc.author.googleLeng N.*
dc.author.googleKim Y.-J.*
dc.author.googleSchroth G.*
dc.author.googleWestwick J.*
dc.author.googleVogel H.*
dc.author.googleMcdonnell N.*
dc.author.googleHall J.G.*
dc.author.googleWhitman M.*
dc.contributor.scopusid여창열(7102545519)*
dc.date.modifydate20240802081000*
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자연과학대학 > 생명과학전공 > Journal papers
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