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Article

CASK pathogenic variant which expands the clinical spectrum for MICPCH syndrome in an adult patient.

American journal of medical genetics. Part A - 1 Oct 2024

Tellerday Jack, Black Jennifer, Schuessler Donald C, Dosa Nienke P, Alcaraz Wendy, Lebel Robert Roger

Abstract excerpt

The CASK gene and its product protein kinase have been associated with microcephaly with pontine and cerebellar hypoplasia (MICPCH) syndrome and various other neurodevelopmental disorders. Clinical presentation is highly variable and generally includes intellectual disability, neurological disorders, and dysmorphic features, at a minimum. We present the case of one of the oldest known currently living patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38785278
DOI: 10.1002/ajmg.a.63722

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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