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
Rienhoff, Hugh Young HY; Yeo, Chang-Yeol CY; Morissette, Rachel R; Khrebtukova, Irina I; Melnick, Jonathan J; Luo, Shujun S; Leng, Nan N; Kim, Yeon-Jin YJ; Schroth, Gary G; Westwick, John J; Vogel, Hannes H; McDonnell, Nazli N; Hall, Judith G JG; Whitman, Malcolm M