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X-linked recessive inheritance of an orofaciodigital syndrome with partial expression in females and survival of affected males

✍ Scribed by Matthew Edwards; Des Mulcahy; Gillian Turner


Book ID
115089746
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
716 KB
Volume
34
Category
Article
ISSN
0009-9163

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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