X-linked inheritance of ocular albinism with late-onset sensorineural deafness
β Scribed by Winship, Ingrid ;Gericke, George ;Beighton, Peter
- Book ID
- 101446113
- Publisher
- John Wiley and Sons
- Year
- 1984
- Tongue
- English
- Weight
- 348 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0148-7299
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## Abstract Tissues of the auditory, ocular and reproductive systems have some similarities in their protein families and structures. Consequently, syndromes comprising these systems are described. Hearing loss alone is a component of more than 400 known syndromes and is a common nonsyndromic conge
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