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[From gene to disease; X-linked hydrocephalus and LiCAM].

Nederlands tijdschrift voor geneeskunde - 17 Jul 2004

Schrander-Stumpel C T R M, Vos Y J

Abstract excerpt

X-linked hydrocephalus (hydrocephalus due to congenital stenosis of aqueduct of Sylvius; MIM number 307000) has a variable clinical expression. About 5% of cases of non-syndromal hydrocephalus are affected by this condition. The severe clinical phenotype is characterized by hydrocephalus and adducted thumbs in a newborn boy, the milder phenotype by mental retardation and spastic paraplegia. Female carriers may...

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Source

Identifiers

PMID: 15326648

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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[From gene to disease; X-linked hydrocephalus and LiCAM].PMID 15326648Read ↗

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X-Linked Hydrocephalus with New L1CAM Pathogenic Variants: Review of the Most Prevalent Molecular and Phenotypic FeaturesSemantic proximity Read ↗

Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.Semantic proximity Read ↗

Genetics and Molecular Pathogenesis of Human HydrocephalusSemantic proximity Read ↗

A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS).Semantic proximity Read ↗

Congenital hydrocephalus: a review of recent advances in genetic etiology and molecular mechanisms.Semantic proximity Read ↗

[Analysis of a pedigree affected with HSAS syndrome due to a noval variant of L1CAM gene].Semantic proximity Read ↗

Congenital hydrocephalus in clinical practice: a genetic diagnostic approach.Semantic proximity Read ↗

[A family with X-linked hydrocephalus resulting from mutations in the neural cell adhesion molecule L1].Semantic proximity Read ↗

Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM gene.Semantic proximity Read ↗

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