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

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

Abstract 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...

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Bibliographic Details
Main Authors: Anne D. D. Joseph, Nirmala D. Sirisena, Thirunavukarasu Kumanan, Vathualan Sujanitha, Veronika Strelow, Raina Yamamoto, Stefan Wieczorek, Vajira H. W. Dissanayake
Format: Article
Language:English
Published: BMC 2019-10-01
Series:BMC Endocrine Disorders
Subjects:
Barakat syndrome
GATA3
HDR syndrome
Hypocalcaemia
Hypoparathyroidism
Renal dysplasia
Online Access:http://link.springer.com/article/10.1186/s12902-019-0438-4

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