These overall data led us to investigate HOXA7, -A9, -A10, -A11 and -A13 genes, as well as PBX1, in several MRKH patients showing a wide range of malformations, from isolated uterovaginal aplasia to severe MURCS association. This evidence concerns the gene PBX1 and Mayer-Rokitansky-Kuster-Hauser syndrome.