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  2. Volume 7, Issue 11
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Online ISSN: 2515-8260

Volume7, Issue11

HYPOPARATHYROIDISM, DEAFNESS, AND RENAL FAILURE: A CASE OF BARAKAT SYNDROME

    Chaithra Gurram, P.Narayana, Sanjay Kalbande

European Journal of Molecular & Clinical Medicine, 2020, Volume 7, Issue 11, Pages 5723-5725

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Abstract

Barakat syndrome is an autosomal dominant rare genetic disease caused by haploinsufficiency of the GATA binding protein 3 (GATA3) gene[1]. It is also known as HDR syndrome, and is characterized by varying degrees of hypoparathyroidism, sensorineural deafness and renal disease. 
Case report: We report a rare case of Barakat Syndrome (HDR Syndrome) a developmental disorder associated with mutations in the GATA3 gene.
Conclusion: It emphasises the need for HDR syndrome to be considered in the differential diagnosis of persistent hypocalcaemia with sensorineural deafness and/or renal involvement, and for appropriate genetic evaluation to be done to confirm the diagnosis.
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(2021). HYPOPARATHYROIDISM, DEAFNESS, AND RENAL FAILURE: A CASE OF BARAKAT SYNDROME. European Journal of Molecular & Clinical Medicine, 7(11), 5723-5725.
Chaithra Gurram, P.Narayana, Sanjay Kalbande. "HYPOPARATHYROIDISM, DEAFNESS, AND RENAL FAILURE: A CASE OF BARAKAT SYNDROME". European Journal of Molecular & Clinical Medicine, 7, 11, 2021, 5723-5725.
(2021). 'HYPOPARATHYROIDISM, DEAFNESS, AND RENAL FAILURE: A CASE OF BARAKAT SYNDROME', European Journal of Molecular & Clinical Medicine, 7(11), pp. 5723-5725.
HYPOPARATHYROIDISM, DEAFNESS, AND RENAL FAILURE: A CASE OF BARAKAT SYNDROME. European Journal of Molecular & Clinical Medicine, 2021; 7(11): 5723-5725.
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