Article
Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2).
Ophthalmic genetics - 1 Jun 2000
Beneyto M M, Cuevas J M, Millán J M, Espinós C, Mateu E, González-Cabo P, Baiget M, Doménech M, Bernal S, Ayuso C, García-Sandoval B, Trujillo M J, Borrego S, Antiñolo G, Carballo M, Nájera C
Abstract excerpt
The Usher syndrome (USH) is a group of autosomal recessive diseases characterized by congenital sensorineural hearing loss and retinitis pigmentosa. Three clinically distinct forms of Usher syndrome have so far been recognized and can be distinguished from one another by assessing auditory and vestibular function. Usher syndrome type II (USH2) patients have congenital moderate-to-severe nonprogressive hearing...
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