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Article

Neuroradiologic features of CASK mutations.

AJNR. American journal of neuroradiology - 1 Oct 2010

Takanashi J, Arai H, Nabatame S, Hirai S, Hayashi S, Inazawa J, Okamoto N, Barkovich A J

Abstract excerpt

Mutations of the CASK gene are associated with X-linked mental retardation with microcephaly and disproportionate brain stem and cerebellar hypoplasia in females. The areas of the cerebrum, corpus callosum, pons, midbrain, and cerebellar vermis and hemisphere and a ratio of cerebrum/corpus callosum areas were measured in 5 female patients with CASK mutations, 67 female controls, and 5 patients with pontine...

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Source

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Identifiers

PMID: 20595373
DOI: 10.3174/ajnr.A2173
PMCID: PMC3756090

Genes

CASK

Provenance

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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Neuroradiologic features of CASK mutations.PMID 20595373Read ↗

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