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Novel mutation in PAX3 gene in Waardenburg syndrome accompanied by unilateral macular degeneration

✍ Scribed by Kozawa, M; Kondo, H; Tahira, T; Hayashi, K; Uchio, E


Book ID
109851936
Publisher
Nature Publishing Group
Year
2008
Tongue
English
Weight
162 KB
Volume
23
Category
Article
ISSN
0950-222X

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## Abstract Mohr‐Tranebjaerg syndrome (MTS) is an X‐linked disorder characterized by childhood‐onset progressive deafness, dystonia, spasticity, mental deterioration, and blindness. It is due to mutations in the deafness/dystonia peptide (__DDP1__) gene. We describe a sporadic 42‐year‐old man with