Article
A novel ZC4H2 gene mutation, K209N, in Japanese siblings with arthrogryposis multiplex congenita and intellectual disability: characterization of the K209N mutation and clinical findings.
Brain & development - 1 Oct 2018
Kondo Daiki, Noguchi Atsuko, Takahashi Ikuko, Kubota Hiroki, Yano Tamami, Sato Yoko, Toyono Miyuki, Sawaishi Yukio, Takahashi Tsutomu
Abstract excerpt
OBJECTIVE: To reveal a molecular lesion in the ZC4H2 gene in a Japanese family with arthrogryposis multiplex congenita (AMC) and intellectual disability (ID), and to characterize clinical features of patients with ZC4H2 gene mutations through a literature review. PATIENTS: The probands are male siblings. The elder brother is an 11-year-old boy who showed AMC and ID and frequent postprandial hypoglycemia since...
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