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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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Bibliografiske detaljer
Udgivet i:J Clin Res Pediatr Endocrinol
Main Authors: Döneray, Hakan, Usui, Takeshi, Kaya, Avni, Dönmez, Ayşe Sena
Format: Artigo
Sprog:Inglês
Udgivet: Galenos Publishing 2015
Fag:
Online adgang: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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