Genetics and mechanisms of disease in Rett syndrome
β Scribed by Francesca Mari; Charlotte Kilstrup-Nielsen; Franca Cambi; Caterina Speciale; Maria Antonietta Mencarelli; Alessandra Renieri
- Book ID
- 119225387
- Publisher
- Elsevier Science
- Year
- 2005
- Tongue
- English
- Weight
- 254 KB
- Volume
- 2
- Category
- Article
- ISSN
- 1740-6765
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Genetic and nongenetic explanations of femalelimited disease, such as the Rett syndrome, are reviewed, with emphasis on the possibility of a disturbance of late-replicating X-chromosome heterochromatinization. A possible disturbance of X-chromosome late-replication, as demonstrated by BUdR terminal
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