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Genetic Heterogeneity of Usher Syndrome Type 1 in French Families

✍ Scribed by Dominique Larget-Piet; Sylvie Gerber; Dominique Bonneau; Jean-Michel Rozet; Sophie Marc; Ihmad Ghazi; Jean-Louis Dufier; Albert David; Pierre Bitoun; Jean Weissenbach; Arnold Munnich; Josseline Kaplan

Book ID
115612096
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
349 KB
Volume
21
Category
Article
ISSN
0888-7543

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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