ea0019p202 | Growth and development | SFEBES2009
Gaynor K
, Grigorieva I
, Nesbit M
, Cranston T
, Gomes T
, Gortner L
, Thakker R
GATA3 mutations cause the congenital autosomal dominant Hypoparathyroidism, Deafness and Renal dysplasia (HDR) syndrome. GATA3 belongs to a family of dual zinc-finger transcription factors that recognise the consensus (A/T)GATA(A/G) motif and are involved in vertebrate embryonic development. We investigated a HDR proband for GATA3 abnormalities. Venous blood was obtained after informed consent, as approved by the local ethical committee, and leukocyte DNA extract...