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We described a syndrome presenting at birth with distal arthrogryposis, hypotonia, bifid uvula, a failure of normal post\u2010natal 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\u2010\u03b2 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. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36056","type":"journal-article","created":{"date-parts":[[2013,7,4]],"date-time":"2013-07-04T05:41:26Z","timestamp":1372916486000},"page":"2040-2046","source":"Crossref","is-referenced-by-count":100,"title":["A mutation in <i>TGFB<\/i><i>3<\/i> associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with marfan and loeys\u2013dietz syndrome"],"prefix":"10.1002","volume":"161","author":[{"suffix":"Jr.","given":"Hugh Young","family":"Rienhoff","sequence":"first","affiliation":[{"name":"Children's Hospital Oakland Research Institute Oakland California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chang\u2010Yeol","family":"Yeo","sequence":"additional","affiliation":[{"name":"Department of Life Sciences Ewha Women's University Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Morissette","sequence":"additional","affiliation":[{"name":"National Institute on Aging NIH Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina","family":"Khrebtukova","sequence":"additional","affiliation":[{"name":"Illumina, Inc. 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Hayward California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Westwick","sequence":"additional","affiliation":[{"name":"Odyssey Thera, Inc. 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