HDR syndrome in a Colombian woman with a genital tract malformation: first case report in Latin America
Rev. salud pública; 20 (5), 2018
ABSTRACT Objectives Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome, also known as Barakat syndrome, is an autosomal dominant transmission hereditary disease with a wide range of penetrance and expressivity. Haploinsufficiency of the GATA3 two finger zinc transcription factor...