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Article

Prenatal diagnosis in a family with X-linked hydrocephalus.

Prenatal diagnosis - 1 Oct 2005

Panayi Maria, Gokhale David, Mansour Sahar, Elles Rob

Abstract excerpt

The neural cell adhesion molecule L1 is a transmembrane glycoprotein belonging to the immunoglobulin superfamily of cell adhesion molecules (CAMs). Its expression is essential during embryonic development of the nervous system and it is involved in cognitive function and memory. Mutations in the L1CAM gene are responsible for four related L1 disorders; X-linked hydrocephalus/HSAS (Hydrocephalus as a result of...

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Identifiers

PMID: 16088863
DOI: 10.1002/pd.1228

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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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