Associated Papers
Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment.
Ahmed ZM et al.
Journal of Medical Genetics, 2018
A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.
Boulouiz R et al.
American Journal of Medical Genetics. Part A, 2008
Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation.
Donaudy F et al.
Journal of Medical Genetics, 2006
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