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CASE REPORT article

Front. Genet.

Sec. Genetics of Common and Rare Diseases

Volume 16 - 2025 | doi: 10.3389/fgene.2025.1501427

A case of hypoparathyroidismsensorineural deafness-renal dysplasia syndrome

Provisionally accepted
Jinyan Yang Jinyan Yang 1Yanjie Mei Yanjie Mei 1Feifei Tang Feifei Tang 1Xinhong Guo Xinhong Guo 1Yanhua Kong Yanhua Kong 1*Ying Deng Ying Deng 2*
  • 1 Bozhou People's Hospital, Bozhou, China
  • 2 The First Affliated Hospital of Nanchang Medical College,Nanchang, Jiangxi,, Nanchang, China

The final, formatted version of the article will be published soon.

    Dear Editor: I am writing to take this opportunity to present to you a paper I have written and hope to publish in your journal, which I believe will provide new perspectives and insights to a wide range of readers. I am submitting this article titled A case of hypoparathyroidism-sensorineural deafness-renal dysplasia syndrome to the Frontiers in Medicine, and the purpose of this article is to discuss a case of a heterozygous variant of the GATA3 gene with a youth onset of hypoparathyroidism-sensorineural deafness -renal dysplasia syndrome (OMIM 146255), which has a low prevalence and a different treatment plan from similar cases that have been reported in the past, in order to raise awareness of early diagnosis of HDR syndrome among frontline clinicians. Considering the wide and influential readership of your journal, we are confident that this study will provide valuable information and insights to your readers. Once again, we would like to thank you for taking the time to read this

    Keywords: Jinyan Yang: Investigation, Writing -original draft, Writing -review & editing. Yanjie Mei: Formal Analysis, Writing -review & editing. Ying Deng: Writing -review & editing. Xinhong Guo: Writing -review & editing. Yanhua Kong: Writing -original draft, Writing -review & editing. Feifei Tang: Writing -review & editing GATA3 gene, HDR syndrome, Hypoparathyroidism, sensorineural deafness

    Received: 16 Oct 2024; Accepted: 31 Mar 2025.

    Copyright: © 2025 Yang, Mei, Tang, Guo, Kong and Deng. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Yanhua Kong, Bozhou People's Hospital, Bozhou, China
    Ying Deng, The First Affliated Hospital of Nanchang Medical College,Nanchang, Jiangxi,, Nanchang, China

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.

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