The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule |
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Authors: | Erik Fransen Lieve Vits Guy Van Camp Patrick J. Willems |
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Affiliation: | Department of Medical Genetics, University of Antwerp, Antwerp, Belgium |
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Abstract: | 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 1), X-linked mental retardation-clasped thumb (MR-CT) syndrome, and some forms of X-linked agenesis of the corpus callosum (ACC). We review 34 L1 mutations in patients with these phenotypes. © 1996 Wiley-Liss, Inc. |
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Keywords: | L1 hydrocephalus MASA mental retardation neural cell adhesion |
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