Hydrocephalus and Hirschsprung’s disease with a mutation of L1CAM
✍ Scribed by Nobuhiko Okamoto; Rolando Del Maestro; Rebeca Valero; Eugenia Monros; Pilar Poo; Yonehiro Kanemura; Mami Yamasaki
- Publisher
- Nature Publishing Group
- Year
- 2004
- Tongue
- English
- Weight
- 131 KB
- Volume
- 49
- Category
- Article
- ISSN
- 1435-232X
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📜 SIMILAR VOLUMES
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
Mutations in L1CAM, the gene encoding the L1 neuronal cell adhesion molecule, lead to an X-linked trait characterized by one or more of the symptoms of hydrocephalus, adducted thumbs, agenesis or hypoplasia of corpus callosum, spastic paraplegia, and mental retardation (L1-disease). We screened 153