LHX1 and Mayer-Rokitansky-Kuster-Hauser syndrome: The mutational analysis of genes related to MRKH-associated pathologies (e.g. galactosemia) or affecting early developmental stages (WT1, PAX2, HOXa9-13, HOXb9-13) or mapped into the copy number variations (CNVs) recurrently found in MRKH patients (LHX1, HNF1B, TBX6, SHOX), has led to unclear results about putative MRKH causative mutations3.