HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report

BACKGROUND: Hypoparathyroidism, sensorineural hearing loss, and renal disease (HDR) syndrome, also known as Barakat syndrome, is a rare genetic disorder with high phenotypic heterogeneity caused by haploinsufficiency of the GATA3 gene on chromosome 10p14-p15. For these reasons, the diagnosis of HDR...

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Detalles Bibliográficos
Autores principales: Yang, Aram, Kim, Jinsup, Ki, Chang-Seok, Hong, Sung Hwa, Cho, Sung Yoon, Jin, Dong-Kyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5659003/
https://www.ncbi.nlm.nih.gov/pubmed/29073906
http://dx.doi.org/10.1186/s12881-017-0484-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5659003/
https://www.ncbi.nlm.nih.gov/pubmed/29073906
http://dx.doi.org/10.1186/s12881-017-0484-6

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