Genotype and phenotype correlation ofPHACTR1-related neurological disorders
错义突变
表型
生物
遗传学
肌动蛋白
基因
作者
Zhao Xu,Lynette G. Sadleir,Himanshu Goel,Xianru Jiao,Yue Niu,Zongpu Zhou,Guillem de Valles‐Ibáñez,Gemma Poke,Michael S. Hildebrand,Nico Lieffering,Jiong Qin,Zhixian Yang
PHACTR1 (phosphatase and actin regulators) plays a key role in cortical migration and synaptic activity by binding and regulating G-actin and PPP1CA. This study aimed to expand the genotype and phenotype of patients with