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Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

✍ Scribed by Gal, Andreas; Bolz, Hanno; von Brederlow, Benigna; Ramírez, Alfredo; Bryda, Elizabeth C.; Kutsche, Kerstin; Nothwang, Hans Gerd; Seeliger, Mathias; Cabrera, Maria del C.-Salcedó; Vila, Manuel Caballeró; Molina, Orfilio Pelaez; Kubisch, Christian


Book ID
109829778
Publisher
Nature Publishing Group
Year
2001
Tongue
English
Weight
420 KB
Volume
27
Category
Article
ISSN
1061-4036

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Mutations in the human gene encoding cadherin23 (CDH23) cause Usher syndrome type 1D (USH1D) and nonsyndromic hearing loss. Individuals with Usher syndrome type I have profound congenital deafness, vestibular areflexia and usually begin to exhibit signs of RP in early adolescence. In the present stu