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The ARX story (epilepsy, mental retardation, autism, and cerebral malformations) one gene leads to many phenotypes
- Source :
- Current Opinion in Pediatrics; December 2003, Vol. 15 Issue: 6 p567-571, 5p
- Publication Year :
- 2003
-
Abstract
- Infantile spasms, mental retardation, autism, and dystonia represent disabling diseases for which little etiologic information is available. Mutations in the Aristaless related homeobox gene (ARX) have been found in patients with these conditions. This discovery provides important genetic information and may ultimately offer treatment options for these patients.
Details
- Language :
- English
- ISSN :
- 10408703 and 1531698X
- Volume :
- 15
- Issue :
- 6
- Database :
- Supplemental Index
- Journal :
- Current Opinion in Pediatrics
- Publication Type :
- Periodical
- Accession number :
- ejs49402579