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Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation

✍ Scribed by MS Hildebrand; NP Thorne; CJ Bromhead; K Kahrizi; JA Webster; Z Fattahi; M Bataejad; WJ Kimberling; D Stephan; H Najmabadi; M Bahlo; RJH Smith

Book ID
110888954
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
713 KB
Volume
77
Category
Article
ISSN
0009-9163

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## Communicated by Dvorah Abeliovich Recessive mutations of MYO7A, encoding unconventional myosin VIIA, can cause either a deaf-blindness syndrome (type 1 Usher syndrome; USH1B) or nonsyndromic deafness (DFNB2). In our study, deafness segregating as a recessive trait in 24 consanguineous families