LHX1, coding for LIM homeobox 1, is also found in the 17q12 area and heterozygote variants are known to cause Müllerian duct abnormalities/Mayer-Rokitansky-Küster-Hauser syndrome (8). Here, LHX1 is linked to Mayer-Rokitansky-Kuster-Hauser syndrome type 1.