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Association of X-linked hydrocephalus and Hirschsprung disease: Report of a new patient with a mutation in the L1CAM gene

✍ Scribed by Raquel M. Fernández; Rocío Núñez-Torres; Lutgardo García-Díaz; Juan Carlos de Agustín; Guillermo Antiñolo; Salud Borrego

Book ID
111995090
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
316 KB
Volume
158A
Category
Article
ISSN
1552-4825

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L1 disease is a group of overlapping clinical phenotypes including X-linked hydrocephalus, MASA syndrome, spastic paraparesis type 1, and X-linked agenesis of corpus callosum. The patients are characterized by hydrocephalus, agenesis or hypoplasia of corpus callosum and corticospinal tracts, mental

Molecular analysis of the L1CAM gene in
Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait
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Eight novel mutations were identified in the gene encoding L1CAM, a neural cell adhesion protein, in patients/families with Xlinked hydrocephalus (XHC) providing additional evidence for extreme allelic heterogeneity of the trait. The two nonsense mutations (Gln440Ter and Gln1042Ter) result most like