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Seizure, Deafness, and Renal Failure: A Case of Barakat Syndrome

Barakat syndrome (also known as HDR syndrome) is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease caused by mutation of the GATA3 gene located at chromosome 10p15. The exact prevalence of this disorder is not known but is very rare, with o...

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Hlavní autoři: Maleki, Nasrollah, Bashardoust, Bahman, Iranparvar Alamdari, Manouchehr, Tavosi, Zahra
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi Publishing Corporation 2013
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3914172/
https://ncbi.nlm.nih.gov/pubmed/24527244
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2013/261907
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