HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report
Abstract 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...
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| Main Authors: | , , , , , |
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| Format: | Book |
| Published: |
BMC,
2017-10-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |