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Article

L1CAM mutation in a boy with hydrocephalus and duplex kidneys.

Pediatric nephrology (Berlin, Germany) - 1 Jul 2007

Liebau Max Christoph, Gal Andreas, Superti-Furga Andrea, Omran Heymut, Pohl Martin

Abstract excerpt

Mutations in the X-chromosomal gene (L1CAM) for cell adhesion molecule L1 are associated with a heterogeneous group of conditions that include agenesis of the corpus callosum, hydrocephalus, spastic paraplegia, adducted thumbs and mental retardation (L1-spectrum disease, CRASH or MASA syndrome). Although L1CAM is expressed during renal development and L1cam-deficient mice have congenital malformations of the...

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Identifiers

PMID: 17294222
DOI: 10.1007/s00467-006-0424-8

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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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