Case report: Hypoparathyroidism-sensorineural hearing loss-renal dysplasia without febrile seizures: a novel mutation in the GATA3 gene

Case report: Hypoparathyroidism-sensorineural hearing loss-renal dysplasia without febrile seizures: a novel mutation in the GATA3 gene

ObjectiveThis study aims to summarize the diagnostic and treatment experience of a case of Hypoparathyroidism-Sensorineural Hearing Loss-Renal Dysplasia (HDR) syndrome caused by a heterozygous mutation in the GATA3 gene.MethodsThe diagnostic and treatment process of the patient with HDR syndrome in...

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Bibliographic Details
Main Authors: Haibin Chen, Yudi Zhang, Xueyao Yang, Yongzhen Li
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-02-01
Series:Frontiers in Endocrinology
Subjects:
HDR syndrome
GATA3 gene
GATA3 mutation
novel mutation
pediatric
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2025.1502545/full
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