Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome
WNT7A基因突变会导致一系列肢体畸形,包括福尔曼综合征和阿瓦迪/拉斯-罗斯柴尔德/辛泽尔海豹肢畸形综合征。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1086/506332
Woods, C G; Stricker, S; Seemann, P; Stern, R; Cox, J; Sherridan, E; Roberts, E; Springell, K; Scott, S; Karbani, G; Sharif, S M; Toomes, C; Bond, J; Kumar, D; Al-Gazali, L; Mundlos, S