Article
Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.
Hearing research - 1 Feb 2015
Lenarduzzi S, Vozzi D, Morgan A, Rubinato E, D'Eustacchio A, Osland T M, Rossi C, Graziano C, Castorina P, Ambrosetti U, Morgutti M, Girotto G
Abstract excerpt
Usher syndrome is an autosomal recessive disorder characterized by retinitis pigmentosa, sensorineural hearing loss and, in some cases, vestibular dysfunction. The disorder is clinically and genetically heterogeneous and, to date, mutations in 11 genes have been described. This finding makes difficult to get a precise molecular diagnosis and offer patients accurate genetic counselling. To overcome this problem...
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