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Article

Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM.

Journal of human genetics - 1 Jan 2004

Okamoto Nobuhiko, Del Maestro Rolando, Valero Rebeca, Monros Eugenia, Poo Pilar, Kanemura Yonehiro, Yamasaki Mami

Abstract excerpt

Abnormalities of the L1CAM gene, a member of the immunoglobulin gene superfamily of neural-cell adhesion molecules, are associated with X-linked hydrocephalus and some allelic disorders. Hirschsprung's disease (HSCR) is characterized by the absence of ganglion cells and the presence of hypertrophic nerve trunks in the distal bowel. There have been three reports of patients with X-linked hydrocephalus and HSCR...

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Source

Identifiers

PMID: 15148591
DOI: 10.1007/s10038-004-0153-4

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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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