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Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified

✍ Scribed by Hansen, Lars; Eiberg, Hans; Barrett, Timothy; Bek, Toke; Kjærsgaard, Per; Tranebjærg, Lisbeth; Rosenberg, Thomas

Book ID
110026395
Publisher
Nature Publishing Group
Year
2005
Tongue
English
Weight
228 KB
Volume
13
Category
Article
ISSN
1018-4813

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## Abstract Fraser syndrome (OMIM 219000) is a rare, autosomal recessive condition with classical features of cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal, and genitourinary malformations, oral clefting and mental retardation. Mutations causing loss of function of the __FRAS1__ gene