In contrast, earlier studies reported that they detected no Wnt4 abnormalities in the DNA extracted from women with MRKH syndrome (Drummond et al., 2008; Ravel et al., 2009; Philibert et al., 2011), considering that the function of Wnt4 gene and the genotypic variability of MRKH are not well comprehended yet. Here, WNT4 is linked to Mayer-Rokitansky-Küster-Hauser syndrome.