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Article

Novel mutations in the L1CAM gene support the complexity of L1 syndrome.

Journal of the neurological sciences - 15 Jul 2010

Bertolin Cinzia, Boaretto Francesca, Barbon Giovanni, Salviati Leonardo, Lapi Elisabetta, Divizia Maria Teresa, Garavelli Livia, Occhi Gianluca, Vazza Giovanni, Mostacciuolo Maria Luisa

Abstract excerpt

X-linked hydrocephalus, MASA syndrome, X-linked complicated Spastic Paraplegia Type I and X-linked partial agenesis of the corpus callosum are the four rare diseases usually referred to L1 syndrome, caused by mutations in the L1CAM gene. By direct sequencing of L1CAM in 16 patients, we were able to identify seven mutations, five of which were never described before. Patients' phenotype evaluation revealed a...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 20447653
DOI: 10.1016/j.jns.2010.03.030

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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