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Article

Microcephaly, disproportionate pontine, and cerebellar hypoplasia syndrome: Two novel mutations in the CASK gene were discovered in Chinese females.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 May 2021

Zhao Jianhui, Hou Mei, Wang Haiqiao, Liu Qiuyan, Sun Dianrong, Wei Wei

Abstract excerpt

Microcephaly, disproportionate pontine and cerebellar hypoplasia (MICPCH) syndrome is a rare and genetic disorder, which is mainly caused by mutations in the CASK gene. We described four variations in the CASK gene in Chinese female patients with MICPCH, who presented with microcephaly, developmental delay, and motor disorder. The CASK mutations were identified using NGS (the next-generation sequencing), copy...

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PMID: 33629417
DOI: 10.1002/jdn.10100

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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