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
β¦ LIBER β¦
L1CAM mutation in a Japanese family with X-linked hydrocephalus: a study for genetic counseling
β Scribed by Satoru Takahashi; Yoshio Makita; Nobuhiko Okamoto; Akie Miyamoto; Junichi Oki
- Book ID
- 117545741
- Publisher
- Elsevier Science
- Year
- 1997
- Tongue
- English
- Weight
- 224 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0387-7604
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X-linked hydrocephalus is caused by mutations in the gene for neural cell adhesion molecule L1 (L1CAM). In this report, we describe identification of a mutation in an isolated case of hydrocephalus with adducted thumbs. Tracing the origin of the mutation within the family showed a degree of somatic