Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature

BACKGROUND: Barakat syndrome is an autosomal dominant rare genetic disease caused by haploinsufficiency of the GATA binding protein 3 (GATA3) gene. It is also known as HDR syndrome, and is characterized by varying degrees of hypoparathyroidism, sensorineural deafness and renal disease. This is the f...

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Detalles Bibliográficos
Autores principales: Joseph, Anne D. D., Sirisena, Nirmala D., Kumanan, Thirunavukarasu, Sujanitha, Vathualan, Strelow, Veronika, Yamamoto, Raina, Wieczorek, Stefan, Dissanayake, Vajira H. W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6816161/
https://www.ncbi.nlm.nih.gov/pubmed/31660939
http://dx.doi.org/10.1186/s12902-019-0438-4

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