Article
Mutational analysis of the WNT gene family in women with Mayer-Rokitansky-Kuster-Hauser syndrome.
Fertility and sterility - 1 Apr 2009
Ravel Celia, Lorenço Diana, Dessolle Lionel, Mandelbaum Jacqueline, McElreavey Ken, Darai Emile, Siffroi Jean Pierre
Abstract excerpt
The aim of this study is to determine if Müllerian agenesis has a genetic basis linked to the WNT genes. Genomic DNA analyses for mutations in the coding sequences of four members of this family in a series of 11 women with Mayer-Rokitansky-Kuster-Hauser syndrome found four variants in the coding sequence of these genes, but causal mutations were not observed. This supports the hypothesis that mutations in the...
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