Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus.

Abstract

OBJECT Mutations in the gene that codes for the human neural cell adhesion molecule L1 (L1CAM), are known to cause a wide variety of anomalies, now understood as phenotypic expressions of L1 syndrome. The correlations between genotype and phenotype, however, are not fully established. The authors report the results of a nationwide investigation of L1CAM… (More)

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