Case report: Hypoparathyroidism-sensorineural hearing loss-renal dysplasia without febrile seizures: a novel mutation in the GATA3 gene
Early genetic testing should be prioritized, and regular monitoring of kidney development and hearing status is essential. The reported case, featuring the novel GATA3 gene mutation c.800G>T (p.C267F), contributes to the enrichment of the genetic database.
Authors
- Yongzhen Li
- Haibin Chen (ORCID: https://orcid.org/0000-0002-2978-7359)
- Xueyao Yang (ORCID: https://orcid.org/0000-0003-1530-1802)
- Yudi Zhang (ORCID: https://orcid.org/0000-0003-2597-3389)
Institutions
- Central South University (CN)
- Hunan Normal University (CN)
- Fourth Hospital of Changsha (CN)
- Second Xiangya Hospital of Central South University (CN)
Publication Details
- Journal
- Frontiers in Endocrinology
- Published
- 2025-02-12
- DOI
- https://doi.org/10.3389/fendo.2025.1502545
- Citations
- 1
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.81