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Article

Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).

Human genetics - 1 Jan 2012

Hayashi Shin, Okamoto Nobuhiko, Chinen Yasutsugu, Takanashi Jun-ichi, Makita Yoshio, Hata Akira, Imoto Issei, Inazawa Johji

Abstract excerpt

The CASK gene encoding a member of the membrane-associated guanylate kinase protein family is highly expressed in the mammalian nervous system of both adults and fetuses, playing several roles in neural development and synaptic function. Recently, CASK aberrations caused by both mutations and del...

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Share to Cerebellar Diseases
Share to Gene Duplication
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21735175
DOI: 10.1007/s00439-011-1047-0

Genes

CASK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21735175-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).PMID 21735175Read ↗

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