Recently, a member of the GATA-binding family of transcription factors was shown to be involved in human hypoparathyroidism, sensorineural deafness, and renal abnormality (HDR) syndrome.
Here we discuss the clinical characteristics of the HDR syndrome and present an overview of the role of GATA3 and related GATA-binding transcription factors during vertebrate embryonic development and their involvement in human disease.