A de Novo ZMIZ1 Pathogenic Variant for Neurodevelopmental Disorder With Dysmorphic Facies and Distal Skeletal Anomalies

por Lu, Guanting, Ma, Liya, Xu, Pei, Xian, Binqiang, Wu, Lianying, Ding, Jianying, He, Xiaoyan, Xia, Huiyun, Ding, Wuwu, Yang, Zhirong, Peng, Qiongling
Publicado 2022

A synonymous variant contributes to a rare Wiedemann-Rautenstrauch syndrome complicated with mild anemia via affecting pre-mRNA splicing

por Peng, Qiongling, Zhang, Yan, Xian, Binqiang, Wu, Lianying, Ding, Jianying, Ding, Wuwu, Zhang, Xin, Ding, Bilan, Li, Ding, Wu, Jin, Hu, Xiaowu, Lu, Guanting
Publicado 2022