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Article

L1-associated diseases: clinical geneticists divide, molecular geneticists unite.

Human molecular genetics - 1 Jan 1997

Fransen E, Van Camp G, Vits L, Willems P J

Abstract excerpt

The neuronal cell adhesion molecule L1 (L1CAM) is a transmembrane glycoprotein belonging to the immunoglobulin superfamily and is essential in the development of the nervous system. It is mainly expressed on neurons and Schwann cells, and plays a key role in axon outgrowth and pathfinding through interactions with various extracellular ligands and intracellular second messenger systems. Mutations in L1 are...

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Identifiers

PMID: 9300653
DOI: 10.1093/hmg/6.10.1625

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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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L1-associated diseases: clinical geneticists divide, molecular geneticists unite.PMID 9300653Read ↗

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CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.Semantic proximity Read ↗

Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus.Semantic proximity Read ↗

Mutations in the cell adhesion molecule L1 cause mental retardation.Semantic proximity Read ↗

The L1 family of cell adhesion molecules: a sickening number of mutations and protein functions.Semantic proximity Read ↗

X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant.Semantic proximity Read ↗

New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.Semantic proximity Read ↗

Neural cell recognition molecule L1: relating biological complexity to human disease mutations.Semantic proximity Read ↗

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