Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis
PDGFRB基因突变会导致常染色体显性遗传性婴儿肌纤维瘤病。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2013.04.024
Martignetti, John A; Tian, Lifeng; Li, Dong; Ramirez, Maria Celeste M; Camacho-Vanegas, Olga; Camacho, Sandra Catalina; Guo, Yiran; Zand, Dina J; Bernstein, Audrey M; Masur, Sandra K; Kim, Cecilia E; Otieno, Frederick G; Hou, Cuiping; Abdel-Magid, Nada; Tweddale, Ben; Metry, Denise; Fournet, Jean-Christophe; Papp, Eniko; McPherson, Elizabeth W; Zabel, Carrie; Vaksmann, Guy; Morisot, Cyril; Keating, Brendan; Sleiman, Patrick M; Cleveland, Jeffrey A; Everman, David B; Zackai, Elaine; Hakonarson, Hakon