Article
Atypical and ultra-rare Usher syndrome: a review.
Ophthalmic genetics - 1 Oct 2020
Nolen Rosalie M, Hufnagel Robert B, Friedman Thomas B, Turriff Amy E, Brewer Carmen C, Zalewski Christopher K, King Kelly A, Wafa Talah T, Griffith Andrew J, Brooks Brian P, Zein Wadih M
Abstract excerpt
Usher syndrome has classically been described as a combination of hearing loss and rod-cone dystrophy; vestibular dysfunction is present in many patients. Three distinct clinical subtypes were documented in the late 1970s. Genotyping efforts have led to the identification of several genes associated with the disease. Recent literature has seen multiple publications referring to "atypical" Usher syndrome...
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