Usher syndrome is a heterogeneous autosomal recessive trait and the most common cause of hereditary deaf-blindness. Usher syndrome type I (USH1) is characterised by profound congenital sensorineural hearing loss, vestibular dysfunction, and prepubertal onset of retinitis pigmentosa. Of the at least
Evaluation of the Myosin VIIA Gene and Visual Function in Patients with Usher Syndrome Type I
โ Scribed by Amitabh K Bharadwaj; Joseph P Kasztejna; Syed Huq; Eliot L Berson; Thaddeus P Dryja
- Book ID
- 115605597
- Publisher
- Elsevier Science
- Year
- 2000
- Tongue
- English
- Weight
- 152 KB
- Volume
- 71
- Category
- Article
- ISSN
- 0014-4835
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๐ SIMILAR VOLUMES
Usher syndrome is an autosomal recessive disorder characterized by congenital hearing impairment and retinitis pigmentosa. Three clinical types are known (USH1, USH2 and USH3), and there is an extensive genetic heterogeneity, with at least ten genes implicated. The most frequently mutated genes are
Usher syndrome type I is the most severe form of Usher syndrome. It is an autosomal recessive disorder characterized by profound congenital sensorineural deafness, retinitis pigmentosa, and vestibular abnormalities. Mutations in the myosin VIIA gene (MYO7A) are responsible for Usher syndrome type 1B