Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant
CRADD 基因突变导致 Caspase-2 介导的神经元凋亡减少,并导致巨脑症和罕见的无脑症变体
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2016.09.010
Nataliya Di Donato, Ying Y Jean, A Murat Maga, Briana D Krewson, Alison B Shupp, Maria I Avrutsky, Achira Roy, Sarah Collins, Carissa Olds, Rebecca A Willert, Agnieszka M Czaja, Rachel Johnson, Jessi A Stover, Steven Gottlieb, Deborah Bartholdi, Anita Rauch, Amy Goldstein, Victoria Boyd-Kyle, Kimber