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Article

A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS).

Journal of molecular neuroscience : MN - 1 Jul 2016

Ferese Rosangela, Zampatti Stefania, Griguoli Anna Maria Pia, Fornai Francesco, Giardina Emiliano, Barrano Giuseppe, Albano Veronica, Campopiano Rosa, Scala Simona, Novelli Giuseppe, Gambardella Stefano

Abstract excerpt

X-linked hydrocephalus (XLH) is a genetic disorder leading to a syndrome characterized by mental retardation, bilateral adducted thumbs, and spasticity of upper and lower limbs. In most cases, X-linked mutation leads to a defective activity of the neuronal cell adhesion molecule L1CAM (L1 cell adhesion molecule, OMIM 308840). Depending on mutations of L1CAM, four X-linked neurological syndromes have been...

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Identifiers

PMID: 27207492
DOI: 10.1007/s12031-016-0754-3

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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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