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
✦ LIBER ✦
Oculo-facio-cardio-dental syndrome: Skewed X chromosome inactivation in mother and daughter suggest X-linked dominant Inheritance
✍ Scribed by Hedera, Peter ;Gorski, Jerome L.
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 158 KB
- Volume
- 123A
- Category
- Article
- ISSN
- 0148-7299
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## Abstract Duchenne muscular dystrophy is an X‐linked condition at the severe end of the spectrum of dystrophinopathies. Females with dystrophin mutations are at risk for cardiomyopathy, but are usually asymptomatic during childhood. However, some girls can exhibit features of Duchenne muscular dy