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

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

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 Cohen syndrome. This case presented with manifestations consistent with Cohen syndrome, including developmental delay, microcephaly, typical facial feat...

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Bibliographic Details
Main Authors: Shu-ying Cai, Pei Li, Shu-xiang Hu, Hui-qiang Cai, Wen-jie Li, Gui-lan Peng
Format: Article
Language:English
Published: Elsevier 2022-06-01
Series:Journal of Neurorestoratology
Subjects:
cohen syndrome
vps13b
phenotype
mutation
Online Access:https://www.sciopen.com/article/10.1016/j.jnrt.2022.100003

Internet

https://www.sciopen.com/article/10.1016/j.jnrt.2022.100003

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