Article
Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss.
Ophthalmic genetics - 1 Apr 2020
Stiff Heather A, Sloan-Heggen Christina M, Ko Ashley, Pfeifer Wanda L, Kolbe Diana L, Nishimura Carla J, Frees Kathy L, Booth Kevin T, Wang Donghong, Weaver Amy E, Azaiez Hela, Kamholz John, Smith Richard J H, Drack Arlene V
Abstract excerpt
Background: Usher syndrome is the most common hereditary syndrome combining deafness and blindness. In the 2017 National Child Count of Children and Youth who are Deaf-Blind, Usher syndrome represented 329 of 10,000 children, but there were also at least 70 other etiologies of deaf-blindness documented. The purpose of this study was to analyze the work-up and ultimate diagnoses of 21 consecutive families who...
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