GREB1L and Mayer-Rokitansky-Kuster-Hauser syndrome type 1: Whole-exome sequencing analysis in this family identified a segregating missense variant in GREB1L, supporting GREB1L variants as a novel monogenic cause of MRKH syndrome associated with incomplete penetrance and sex-limited expressivity and a phenotype mirroring the early descriptions of hereditary renal/urogenital adysplasia (41–43, 140, 141).