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The cochlear nuclei in two patients with Usher syndrome type I

✍ Scribed by Mariette Wagenaar; Paul Draaijer; Hans Meek; H.J. ten Donkelaar; Pieter Wesseling; William Kimberling; Cor Cremers


Book ID
117340254
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
127 KB
Volume
50
Category
Article
ISSN
0165-5876

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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