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Article

CRASH syndrome: mutations in L1CAM correlate with severity of the disease.

Neuropediatrics - 1 Jun 1997

Yamasaki M, Thompson P, Lemmon V

Abstract excerpt

X-linked hydrocephalus, MASA syndrome and certain forms of X-linked spastic paraplegia and agenesis of corpus callosum are now known to be due to mutations in the gene for the neural cell adhesion molecule L1 (19, 30). As a result, these syndromes have recently been reclassified as CRASH syndrome, an acronym for Corpus callosum hypoplasia, Retardation, Adducted thumbs, Spasticity and Hydrocephalus (8). A...

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Identifiers

PMID: 9266556
DOI: 10.1055/s-2007-973696
PMCID: PMC1563987

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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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