Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies
损害 GSK3 介导的 MAF 磷酸化的突变会导致白内障、耳聋、智力障碍、癫痫和唐氏综合症样面容
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2015.03.001
Marcello Niceta, Emilia Stellacci, Karen W Gripp, Giuseppe Zampino, Maria Kousi, Massimiliano Anselmi, Alice Traversa, Andrea Ciolfi, Deborah Stabley, Alessandro Bruselles, Viviana Caputo, Serena Cecchetti, Sabrina Prudente, Maria T Fiorenza, Carla Boitani, Nicole Philip, Dmitriy Niyazov, Chiara Leo
