FAM111A mutations result in hypoparathyroidism and impaired skeletal development
FAM111A基因突变会导致甲状旁腺功能减退和骨骼发育障碍。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2013.04.020
Unger, Sheila; Górna, Maria W; Le Béchec, Antony; Do Vale-Pereira, Sonia; Bedeschi, Maria Francesca; Geiberger, Stefan; Grigelioniene, Giedre; Horemuzova, Eva; Lalatta, Faustina; Lausch, Ekkehart; Magnani, Cinzia; Nampoothiri, Sheela; Nishimura, Gen; Petrella, Duccio; Rojas-Ringeling, Francisca; Utsunomiya, Akari; Zabel, Bernhard; Pradervand, Sylvain; Harshman, Keith; Campos-Xavier, Belinda; Bonafé, Luisa; Superti-Furga, Giulio; Stevenson, Brian; Superti-Furga, Andrea