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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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| Publicado en: | BMC Med Genet |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
BioMed Central
2017
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5659003/ https://ncbi.nlm.nih.gov/pubmed/29073906 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0484-6 |
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