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A Novel De novo GATA-binding Protein 3 Mutation in a Patient with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome
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A Novel De novo GATA-binding Protein 3 Mutation in a Patient with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome
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A Novel De novo GATA-binding Protein 3 Mutation in a Patient with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome
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Journal Article
A Novel De novo GATA-binding Protein 3 Mutation in a Patient with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome
2017
Overview
INTRODUCTION
Hypoparathyroidism, sensorineural deafness, and renal dysplasia （HDR） syndrome, also called Barakat syndrome, is an autosomal dominant genetic disease caused by haploinsufficiency of the GATA-binding protein 3 （GATA3） gene located on the 10pl 5 chromosome.
Publisher
Medknow Publications and Media Pvt. Ltd,Lippincott Williams & Wilkins Ovid Technologies,Medknow Publications & Media Pvt Ltd,Wolters Kluwer
