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The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule

✍ Scribed by Fransen, Erik; Vits, Lieve; Camp, Guy Van; Willems, Patrick J.

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
67 KB
Volume
64
Category
Article
ISSN
0148-7299

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✦ Synopsis

Mutations in the gene encoding the neuronal cell adhesion molecule L1 are responsible for several syndromes with clinical overlap, including X-linked hydrocephalus (XLH, HSAS), MASA (mental retardation, aphasia, shuffling gait, adducted thumbs) syndrome, complicated X-linked spastic paraplegia (SP l), X-linked mental retardationclasped thumb (MR-CT) syndrome, and some forms of X-linked agenesis of the corpus callosum (ACC). W e review 34 L1 mutations in patients with these phenotypes.

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