RBM8A and Mayer-Rokitansky-Kuster-Hauser syndrome: In cases of MRKH syndrome, recurrent microdeletions and microduplications (1q21,1; 2q12.1q14.1; 16p11.2; 17p14.3; 17q12; 22q11.21; 22q11.21q11.23) and mutations in genes located on these loci (RBM8A, PAX8, TBX1, TBX6, LHX, HNF1B, WNT4) have been identified [1, 3, 4].