1 | DFNA26, DFNB36, ESPN |
A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family. | |
Boulouiz R, Li Y, Soualhine H, Abidi O, Chafik A, Nürnberg G, Becker C, Nürnberg P, Kubisch C, Wollnik B, Barakat A. | |
Am J Med Genet A 146A(23):3086-9. No abstract available. 2008 | |
2 | ESPN, DFNB36, DFNA26 |
Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation. | |
Donaudy F, Zheng L, Ficarella R, Ballana E, Carella M, Melchionda S, Estivill X, Bartles JR, Gasparini P. | |
J Med Genet 43(2):157-61. Epub 2005 Jun 1. 2006 | |