Cargando…
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....
| Autores principales: | , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Yonsei University College of Medicine
2015
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4276771/ https://www.ncbi.nlm.nih.gov/pubmed/25510779 http://dx.doi.org/10.3349/ymj.2015.56.1.300 |