The hypothesis of germinal mosaicism in the unaffected mother of two half-sisters affected with Rett syndrome is postulated to explain the unusual recurrence of this genetic disorder affecting only females (1/10000); it might be caused by new X-linked mutations with lethality in male fetuses. The an
β¦ LIBER β¦
A New Rett Syndrome Family Consistent with X-Linked Inheritance Expands the X Chromosome Exclusion Map
β Scribed by N. Carolyn Schanen; E. Jill Roth Dahle; Fiorentino Capozzoli; Vanja A. Holm; Huda Y. Zoghbi; Uta Francke
- Book ID
- 117855177
- Publisher
- American Society of Human Genetics
- Year
- 1997
- Tongue
- English
- Weight
- 419 KB
- Volume
- 61
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/515525
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