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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Bibliographische Detailangaben
Veröffentlicht in:Yonsei Med J
Hauptverfasser: Cheon, Chong-Kun, Kim, Gu-Hwan, Yoo, Han-Wook
Format: Artigo
Sprache:Inglês
Veröffentlicht: Yonsei University College of Medicine 2015
Schlagworte:
Case Report
Online Zugang: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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