Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
CAST 功能丧失突变会导致皮肤剥落、白甲病、肢端点状角化病、唇炎和指关节垫
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2014.12.026
Zhimiao Lin, Jiahui Zhao, Daniela Nitoiu, Claire A Scott, Vincent Plagnol, Frances J D Smith, Neil J Wilson, Christian Cole, Mary E Schwartz, W H Irwin McLean, Huijun Wang, Cheng Feng, Lina Duo, Eray Yihui Zhou, Yali Ren, Lanlan Dai, Yulan Chen, Jianguo Zhang, Xun Xu, Edel A O'Toole, David P Kelsell