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LETTER TO JMG Genetic homogeneity and phenotypic variability among
 

Summary: LETTER TO JMG
Genetic homogeneity and phenotypic variability among
Ashkenazi Jews with Usher syndrome type III
S L Ness, T Ben-Yosef, A Bar-Lev, A C Madeo, C C Brewer, K B Avraham, R Kornreich, R J Desnick,
J P Willner, T B Friedman, A J Griffith
. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
J Med Genet 2003;40:767772
U
sher syndrome (USH) is an autosomal recessive
disorder comprising of bilateral sensorineural hearing
loss, progressive loss of vision due to retinitis pigmen-
tosa (RP), and variable vestibular dysfunction. It is the most
frequent cause of deafness and concurrent blindness in
schools for the deaf-blind,1
with a prevalence of 1/16 000 to 1/
50 000 in various populations.2
The majority of Usher
syndrome cases can be clinically classified into three
subtypes.3 4
USH type I (USH1; OMIM 276900, 276903,

  

Source: Avraham, Karen - Department of Human Genetics and Molecular Medicine, Tel Aviv University

 

Collections: Biology and Medicine