GATA3 and renal dysplasia: Additionally, in the proband’s sister, we found a novel variant, NM_001002295.2:c.985T>G, leading to the missense change p.Trp329Gly in GATA3, the gene responsible for the rare syndrome “hypoparathyroidism, sensorineural deafness, and renal dysplasia” with multiple causal pathogenic variants reported [20].