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Novel TFAP2B Mutations That Cause Char Syndrome Provide a Genotype-Phenotype Correlation

✍ Scribed by Feng Zhao; Constance G. Weismann; Masahiko Satoda; Mary Ella M. Pierpont; Elizabeth Sweeney; Elizabeth M. Thompson; Bruce D. Gelb


Book ID
117853694
Publisher
American Society of Human Genetics
Year
2001
Tongue
English
Weight
868 KB
Volume
69
Category
Article
ISSN
0002-9297

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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,