A Novel De novo GATA-binding Protein 3 Mutation in a Patient with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome.

Abstract

INTRODUCTIONHypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome, also called Barakat syndrome, is an autosomal dominant genetic disease caused by haploinsufficiency of the GATA-binding protein 3 (GATA3) gene located on the 10p15 chromosome.[1]GATA3 belongs to a family of d