Human Genome and Diseases: Review¶Transcription factor GATA3 and the human HDR syndrome

Abstract

Recently, a member of the GATA-binding family of transcription factors was shown to be involved in the human hypoparathyroidism, sensorineural deafness and renal anomalies (HDR) syndrome. Deletion-mapping studies and subsequent mutation analysis revealed that haploinsufficiency for GATA3 is the underlying mechanism of the HDR syndrome. Here we discuss the… (More)
DOI: 10.1007/PL00000940

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