| 1 | DFNA26, DFNB36, ESPN
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| A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.
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| Boulouiz R, Li Y, Soualhine H, Abidi O, Chafik A, Nürnberg G, Becker C, Nürnberg P, Kubisch C, Wollnik B, Barakat A.
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| Am J Med Genet A 146A(23):3086-9. No abstract available.
2008
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| 2 | ESPN, DFNB36, DFNA26
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| Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation.
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| Donaudy F, Zheng L, Ficarella R, Ballana E, Carella M, Melchionda S, Estivill X, Bartles JR, Gasparini P.
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| J Med Genet 43(2):157-61. Epub 2005 Jun 1. 2006
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| 3 | ESPN, DFNB36, ESPNP
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| Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction.
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| Naz S, Griffith AJ, Riazuddin S, Hampton LL, Battey JF Jr, Khan SN, Riazuddin S, Wilcox ER, Friedman TB.
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| J Med Genet 41(8):591-5. 2004
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