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Article

X-linked hydrocephalus: another two families with an L1 mutation.

Genetic counseling (Geneva, Switzerland) - 1 Jan 2003

Rodríguez Criado G, Pérez Aytés A, Martínez F, Vos Y J, Verlind E, González-Meneses López A, Gómez de Terreros Sánchez I, Schrander-Stumpel C

Abstract excerpt

X-linked hydrocephalus is a variable condition caused by mutations in the gene encoding for L1CAM. This gene is located at Xq28. Clinically the spectrum ranges from males with lethal congenital hydrocephalus to mild/moderate mental retardation and spastic paraplegia. Few carrier females show minimal signs of the syndrome. Although most cases are familial, de novo situations have been reported. We report two new...

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PMID: 12725590

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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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