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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Bibliographic Details
Main Authors: Aram Yang, Jinsup Kim, Chang-Seok Ki, Sung Hwa Hong, Sung Yoon Cho, Dong-Kyu Jin
Format: Article
Published: BMC 2017-10-01
Series:BMC Medical Genetics
Online Access:http://link.springer.com/article/10.1186/s12881-017-0484-6