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The First Korean Case of HDR Syndrome Confirmed by Clinical and Molecular Investigation
Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is a rare condition inherited as autosomal dominant trait and characterized by hypoparathyroidism, sensorineural deafness, and renal dysplasia. HDR syndrome is caused by haploinsufficiency of the GATA3 gene located on chromosome 10p15....
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| Gepubliceerd in: | Yonsei Med J |
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| Hoofdauteurs: | , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Yonsei University College of Medicine
2015
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4276771/ https://ncbi.nlm.nih.gov/pubmed/25510779 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3349/ymj.2015.56.1.300 |
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