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A duplication in the L1CAM gene associated with X–linked hydrocephalus

✍ Scribed by Camp, Guy Van; Vits, Lieve; Coucke, Paul; Lyonnet, Stanislas; Schrander-Stumpel, Connie; Darby, John; Holden, Jeanette; Munnich, Arnold; Willems, Patrick J.

Book ID: 109916654
Publisher: Nature Publishing Group
Year: 1993
Tongue: English
Weight: 576 KB
Volume: 4
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng0893-421

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Communicated by Mark H. Paalman L1 disease is a clinically heterogeneous X-chromosomal neurodevelopmental disorder that is frequently associated with mental retardation and congenital hydrocephalus in males. It is caused by mutations in L1CAM that encodes a multifunctional transmembrane neuronal cel