Prenatal diagnosis of L1CAM gene mutations in X-linked hydrocephalus
β Scribed by Yamasaki, Mami ;shohuda, Tomoko ;Sakamoto, Hiroaki ;Nonaka, Masahiro ;Kanemura, Yonehiro
- Book ID
- 120694380
- Publisher
- BioMed Central
- Year
- 2006
- Tongue
- English
- Weight
- 73 KB
- Volume
- 3
- Category
- Article
- ISSN
- 1743-8454
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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
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
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