Recently, a valuable gene expression profile of in vitro cultured vaginal tissue from MRKH syndrome patients has identified dysregulation of MUC1, WNT7A, JAG1 and DLL1, emphasizing the critical role of canonical Wnt signaling and the NOTCH pathway [40]. This evidence concerns the gene JAG1 and Mayer-Rokitansky-Kuster-Hauser syndrome.