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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Detalles Bibliográficos
Autores principales: Cheon, Chong-Kun, Kim, Gu-Hwan, Yoo, Han-Wook
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Yonsei University College of Medicine 2015
Materias:
Case Report
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

Internet

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

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