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Article

Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein.

Journal of medical genetics - 19 Jul 2024

Patel Paras A, LaConte Leslie E W, Liang Chen, Cecere Thomas, Rajan Deepa, Srivastava Sarika, Mukherjee Konark

Abstract excerpt

BACKGROUND: Pontocerebellar hypoplasia (PCH) may present with supratentorial phenotypes and is often accompanied by microcephaly. Damaging mutations in the X-linked gene CASK produce self-limiting microcephaly with PCH in females but are often lethal in males. CASK deficiency leads to early degeneration of cerebellar granule cells but its role in other regions of the brain remains uncertain. METHOD: We generated...

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Source

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Identifiers

PMID: 38670634
DOI: 10.1136/jmg-2023-109747
PMCID: PMC11290809

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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