The origin of Rett syndrome has long been debated, but several observations have suggested an X-linked dominant inheritance pattern. We and others have pursued an exclusion-mapping strategy using DNA from a small number of familial Rett syndrome cases. This work resulted in the narrowing of the regi
The Genetic Basis of Rett Syndrome: Candidate Gene Considerations
โ Scribed by Alan K. Percy; Carolyn Schanen; Leon S. Dure IV
- Book ID
- 115639381
- Publisher
- Elsevier Science
- Year
- 1998
- Tongue
- English
- Weight
- 68 KB
- Volume
- 64
- Category
- Article
- ISSN
- 1096-7192
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Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that affects females. Exclusion mapping studies using a new family with maternal inheritance of RTT defined Xq28 as the candidate region for the RTT gene. Six candidate genes were selected for mutation analysis based on their es
The gene for the gastrin-releasing peptide receptor (GRPR) has been mapped to a candidate region for Rett syndrome (RTT) on the short arm of the X chromosome. The recent report of a translocation that disrupted the gene in an individual with mental retardation and autistic behavior prompted us to ex