Article
A 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.
American journal of medical genetics. Part A - 1 Aug 2013
Rienhoff Hugh Young, Yeo Chang-Yeol, Morissette Rachel, Khrebtukova Irina, Melnick Jonathan, Luo Shujun, Leng Nan, Kim Yeon-Jin, Schroth Gary, Westwick John, Vogel Hannes, McDonnell Nazli, Hall Judith G, Whitman Malcolm
Abstract excerpt
The 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...
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