Endocrine Abstracts

Background: Haploinsufficiency of the GATA3 gene located on chromosome 10p15, is well-recognised as the cause of hypoparathyroidism, sensorineural deafness and renal dysgenesis; the HDR syndrome. A number of abnormalities within the GATA3 gene have been identified, with varying phenotypic characteristics. GATA3 is associated with other abnormalities including, abnormalities of Mullerian structures, hypomagnesia, hemimegalenencephaly and diabetes mell...