Until recently, WNT4 deficiency was the only known monogenetic cause for MRKH, but different groups identified by multiplex ligation-dependent probe amplification (MLPA) and genome-wide array comparative genomic hybridisation (CGH) microimbalances affecting new genes that play a role in the pathogenesis of this condition. Here, WNT4 is linked to Mayer-Rokitansky-Kuster-Hauser syndrome.