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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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| Publicado no: | J Clin Res Pediatr Endocrinol |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Galenos Publishing
2015
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| Assuntos: | |
| Acesso em linha: | 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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