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X-linked recessive inheritance of radial ray deficiencies in a family with four affected males

✍ Scribed by Galjaard, Robert-Jan H; Kostakoglu, Naci; Hoogeboom, Jeannette J M; Breedveld, Guido J; van der Linde, Herma C; Hovius, Steven ER; Oostra, Ben A; Sandkuijl, Lodewijk A; Akarsu, A Nurten; Heutink, Peter


Book ID
110025169
Publisher
Nature Publishing Group
Year
2001
Tongue
English
Weight
150 KB
Volume
9
Category
Article
ISSN
1018-4813

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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