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Opitz GBBB syndrome: Chromosomal evidence of an X-linked form

✍ Scribed by Verloes, Alain ;David, Albert ;Odent, Sylvie ;Toutain, Annick ;André, Marie-Joseph ;Lucas, Josette ;Marec, Bernard Le


Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
462 KB
Volume
59
Category
Article
ISSN
0148-7299

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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