Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation
身材矮小、甲发育不良、面部畸形和毛发稀少综合征是由 POC1A 突变引起的
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2012.06.003
Ofer Sarig, Sagi Nahum, Debora Rapaport, Akemi Ishida-Yamamoto, Dana Fuchs-Telem, Li Qiaoli, Ksenya Cohen-Katsenelson, Ronen Spiegel, Janna Nousbeck, Shirli Israeli, Zvi-Uri Borochowitz, Gilly Padalon-Brauch, Jouni Uitto, Mia Horowitz, Stavit Shalev, Eli Sprecher