A novel ZC4H2 gene mutation, K209N, in Japanese siblings with arthrogryposis multiplex congenita and intellectual disability: characterization of the K209N mutation and clinical findings

Article ID	Journal	Published Year	Pages	File Type
8951402	Brain and Development	2018	8 Pages	PDF

Abstract

A Japanese family with AMC and ID caused by a novel ZC4H2 gene mutation was reported. Hypoglycemia should be considered one of the features in this disorder.

Keywords

Arthrogryposis multiplex congenita hypoglycemia

Related Topics

Life Sciences Neuroscience Developmental Neuroscience

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A novel ZC4H2 gene mutation, K209N, in Japanese siblings with arthrogryposis multiplex congenita and intellectual disability: characterization of the K209N mutation and clinical findings

Authors

Daiki Kondo, Atsuko Noguchi, Ikuko Takahashi, Hiroki Kubota, Tamami Yano, Yoko Sato, Miyuki Toyono, Yukio Sawaishi, Tsutomu Takahashi,