A new X-linked recessive deafness syndrome was recently reported and mapped to Xq22 (Mohr-Tranebjaerg syndrome). In addition to deafness, the patients had visual impairment, dystonia, fractures, and mental deterioration. The female carriers did not have any significant manifestations of the syndrome
Fragile-X syndrome and skewed X-chromosome inactivation within a family: A female member with complete inactivation of the functional X chromosome
✍ Scribed by D. Heine-Suñer; L. Torres-Juan; M. Morlà; X. Busquets; F. Barceló; G. Picó; L. Bonilla; N. Govea; M. Bernués; J. Rosell
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 160 KB
- Volume
- 122A
- Category
- Article
- ISSN
- 1552-4825
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