Endocrine Abstracts

The hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant disorder that is due to a haploinsufficiency of the zinc-finger transcription factor, GATA3 (Nature (2000) 406: 419) whose gene is located on chromosome 10p15. In order to further characterise GATA3 abnormalities we have investigated 6 HDR patients for GATA3 mutations. Leukocyte DNA samples from the 6 probands and an unrelated normal individual were used with 9 pairs of oligonucleotide...