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Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss

✍ Scribed by Christopher Beck,Jose Carmelo Pérez-Álvarez…


Book ID
126972569
Publisher
Springer-Verlag
Year
2014
Tongue
English
Weight
420 KB
Volume
272
Category
Article
ISSN
0302-9530

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## Abstract Mutations in the __WFS1__ gene have been reported in Wolfram syndrome (WS), an autosomal recessive disorder defined by early onset of diabetes mellitus (DM) and progressive optic atrophy. Because of the low prevalence of this syndrome and the recent identification of the __WFS1__ gene,