Citations for
1DFNA26, 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
2ESPN, 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