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. Here, SHOX is linked to Mayer-Rokitansky-Kuster-Hauser syndrome.