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Article

Three cases with L1 syndrome and two novel mutations in the L1CAM gene.

European journal of pediatrics - 1 Nov 2015

Marín Rosario, Ley-Martos Miriam, Gutiérrez Gema, Rodríguez-Sánchez Felicidad, Arroyo Diego, Mora-López Francisco

Abstract excerpt

UNLABELLED: Mutations in the L1CAM gene have been identified in the following various X-linked neurological disorders: congenital hydrocephalus; mental retardation, aphasia, shuffling gait, and adducted thumbs (MASA) syndrome; spastic paraplegia; and agenesis of the corpus callosum. These conditions are currently considered different phenotypes of a single entity known as L1 syndrome. We present three families...

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Identifiers

PMID: 25948108
DOI: 10.1007/s00431-015-2560-2

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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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