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Article

Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus.

Neurogenetics - 1 Feb 2012

Marx Mariola, Diestel Simone, Bozon Muriel, Keglowich Laura, Drouot Nathalie, Bouché Elisabeth, Frebourg Thierry, Minz Marie, Saugier-Veber Pascale, Castellani Valérie, Schäfer Michael K E

Abstract excerpt

Mutations in the gene encoding the neural cell adhesion molecule L1CAM cause several neurological disorders collectively referred to as L1 syndrome. We report here a family case of X-linked hydrocephalus in which an obligate female carrier has two exonic L1CAM missense mutations in trans substituting amino acids in the first (p.W635C) or second (p.V768I) fibronectin-type III domains. We performed various...

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Identifiers

PMID: 22222883
DOI: 10.1007/s10048-011-0307-4

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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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