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Skewing of X-chromosome inactivation in three generations of carriers with X-linked chronic granulomatous disease within one family

✍ Scribed by M. Y. Köker; Ö. Sanal; M. De Boer; I. Tezcan; A. Metin; Ç. Tan; F. Ersoy; D. Roos


Book ID
108711371
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
295 KB
Volume
36
Category
Article
ISSN
0014-2972

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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