A recurrent PDGFRB mutation causes familial infantile myofibromatosis.
American Journal Of Human Genetics
Cheung, Yee Him YH; Gayden, Tenzin T; Campeau, Philippe M PM; LeDuc, Charles A CA; Russo, Donna D; Nguyen, Van-Hung VH; Guo, Jiancheng J; Qi, Ming M; Guan, Yanfang Y; Albrecht, Steffen S; Moroz, Brenda B; Eldin, Karen W KW; Lu, James T JT; Schwartzentruber, Jeremy J; Malkin, David D; Berghuis, Albert M AM; Emil, Sherif S; Gibbs, Richard A RA; Burk, David L DL; Vanstone, Megan M; Lee, Brendan H BH; Orchard, David D; Boycott, Kym M KM; Chung, Wendy K WK; Jabado, Nada N