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[New mutation in the CASK gene in a child with microcephaly syndrome and pontocerebellar hypoplasia].

Revista de neurologia - 16 Aug 2020

González-Roca I, Alonso-Rivero P, Sánchez-Soblechero A, Vázquez-López M

Abstract excerpt

TITLE: Nueva mutación en el gen CASK en un niño con síndrome de microcefalia e hipoplasia pontocerebelosa.

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Identifiers

PMID: 32700313
DOI: 10.33588/rn.7104.2020120

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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Research trail→

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[New mutation in the CASK gene in a child with microcephaly syndrome and pontocerebellar hypoplasia].PMID 32700313Read ↗

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.Semantic proximity Read ↗

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

A Novel Frameshift CASK Variant in a 6-Month-Old Korean Female Infant with Global Developmental Delay, Progressive Microcephaly, and Pontocerebellar Hypoplasia: A Case Report.Semantic proximity Read ↗

A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: A Case Report and Literature ReviewSemantic proximity Read ↗

A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review.Semantic proximity Read ↗

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

Novel CASK mutations in cases with syndromic microcephaly.Semantic proximity Read ↗

A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia.Semantic proximity Read ↗

Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein.Semantic proximity Read ↗

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

[Lesions of the 8th cranial nerve in spino-pontocerebellar heredo-ataxias: association with other phenotypes].Semantic proximity Read ↗

The eldest case of MICPCH with CASK mutation exhibiting gross motor regression.Semantic proximity Read ↗

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