Mutations in the gene for neural cell adhesion molecule L1 are responsible for the highly variable phenotype found in families with X-linked hydrocephalus, MASA syndrome, and spastic paraplegia type I. To date, 32 different mutations have been observed, the majority being unique to individual famili
X-linked hydrocephalus: a novel missense mutation in the L1CAM gene
✍ Scribed by L.ászló Sztriha; Yvonne J Vos; Edwin Verlind; Johan Johansen; Bertel Berg
- Book ID
- 117591110
- Publisher
- Elsevier Science
- Year
- 2002
- Tongue
- English
- Weight
- 117 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0887-8994
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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
Communicated by Mark H. Paalman L1 disease is a clinically heterogeneous X-chromosomal neurodevelopmental disorder that is frequently associated with mental retardation and congenital hydrocephalus in males. It is caused by mutations in L1CAM that encodes a multifunctional transmembrane neuronal cel