The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome

@inproceedings{Dneray2015TheFT,
  title={The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome},
  author={Hakan D{\"o}neray and Takeshi Usui and A. R. Kaya and Ayşe Sena D{\"o}nmez},
  booktitle={Journal of clinical research in pediatric endocrinology},
  year={2015}
}
Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant genetic disorder characterized by hypoparathyroidism, sensorineural deafness and renal dysplasia. We herein present the first Turkish patient with HDR syndrome, who has a p.R367X mutation. This report indicates that p.R367X is not a mutation specific for the Far Eastern… CONTINUE READING