Cohen syndrome due to a novel VPS13B mutation in a Chinese family

Cai, SY; Li, P; Hu, SX; Cai, HQ; Li, WJ; Peng, GL

Peng, GL (通讯作者)，Xiamen Univ, Women & Childrens Hosp, Sch Med, Dept Pediat Neurol Rehabil, Xiamen 361003, Fujian, Peoples R China.

JOURNAL OF NEURORESTORATOLOGY, 2022; 10 (2):

Abstract

We present the case of a novel homozygous nonsense (c.4846C > T [p.R1616X]) mutation in the VPS13B in a Chinese boy with the primary symptoms of Co......

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