Of those, LHX1, EMX2 and the Hox genes have previously been associated with MRKH syndrome either by sequencing of patient blood or functional in vivo studies with animal models (Ledig et al., 2012; Masse et al., 2009; Miyamoto et al., 1997). Here, LHX1 is linked to Mayer-Rokitansky-Kuster-Hauser syndrome.