Nalaganje...
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....
Shranjeno v:
| izdano v: | Yonsei Med J |
|---|---|
| Main Authors: | , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Yonsei University College of Medicine
2015
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| Teme: | |
| Online dostop: | 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 |
| Oznake: |
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