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

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...

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Vydáno v:J Clin Res Pediatr Endocrinol
Hlavní autoři: Döneray, Hakan, Usui, Takeshi, Kaya, Avni, Dönmez, Ayşe Sena
Médium: Artigo
Jazyk:Inglês
Vydáno: Galenos Publishing 2015
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4563186/
https://ncbi.nlm.nih.gov/pubmed/26316437
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.1874
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