The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome
Özet
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 populations and also that urological findings in infants with hypoparathyroidism should be carefully examined because clinical findings relating to the p.R367X mutation may show a variable age of onset.
Anahtar kelimeler
Atıf için künye
Döneray, H., Usui, T., Kaya, A., & Dönmez, A. S. (2015). The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome. JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 7(2), 140–143. https://doi.org/10.4274/jcrpe.1874
BibTeX
@article{doneray2015-222676,
author = {Döneray, Hakan and Usui, Takeshi and Kaya, Avni and Dönmez, Ayşe Sena},
title = {The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome},
journal = {JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY},
year = {2015},
volume = {7},
number = {2},
pages = {140--143},
issn = {1308-5727},
doi = {10.4274/jcrpe.1874},
url = {https://akademik.atauni.edu.tr/yayinlar/222676-the-first-turkish-case-of-hypoparathyroidism-deafness-and-renal-dysplasia-hdr}
}