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WFS1 and non-syndromic low-frequency sensorineural hearing loss: A novel mutation in a Portuguese case

✍ Scribed by Gonçalves, A.C.; Matos, T.D.; Simões-Teixeira, H.R.; Pimenta Machado, M.; Simão, M.; Dias, Ó.P.; Andrea, M.; Fialho, G.; Caria, H.


Book ID
122161136
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
475 KB
Volume
538
Category
Article
ISSN
0378-1119

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Hereditary hearing loss (HHL) is an extremely common disorder. About 70% of HHL is non-syndromic, with autosomal recessive forms accounting for ~ 85% of the genetic load. Although very heterogeneous, the most common cause of HHL in many different world populations is mutations of GJB2, a gene that e