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Article

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

Rinsho shinkeigaku = Clinical neurology - 1 Mar 1996

Maruta K, Ohi T, Ohdo S, Takechi T, Sakuragawa N, Matsukura S

Abstract excerpt

We present the two siblings with X-linked hydrocephalus (XLH) and discuss the clinical features and genetical analysis of them. Case 1. The proband, a male, was delivered by the emergency cesarean section because of enlarged head circumference (44cm). His head circumference at 24 years old was 92cm. Neurological examination revealed adducted thumbs, horizontal nystagmus, hyperreflexia and spasticity of legs. He...

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Source

Identifiers

PMID: 8741350

Genes

HLX

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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