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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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Detalles Bibliográficos
Autores principales: Maleki, Nasrollah, Bashardoust, Bahman, Iranparvar Alamdari, Manouchehr, Tavosi, Zahra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3914172/
https://www.ncbi.nlm.nih.gov/pubmed/24527244
http://dx.doi.org/10.1155/2013/261907