Large-scale screening and functional study of <i>DUOXA2</i> variant in 599 Chinese patients with congenital hypothyroidism
Our study greatly expanded the variant spectrum of the DUOXA2 gene. Pedigree and in vitro functional studies improved the accuracy of genetic counseling. The genotype-phenotype relationship of DUOXA2 broadened the understanding of the CH phenotype spectrum.
Authors
- Shuang‐Xia Zhao (ORCID: https://orcid.org/0000-0002-5015-9541)
- Cao-Xu Zhang (ORCID: https://orcid.org/0000-0001-7653-0225)
- Feiyang Zhang (ORCID: https://orcid.org/0000-0002-3746-9756)
- H Zhang (ORCID: https://orcid.org/0009-0005-9853-168X)
- Fengyao Wu (ORCID: https://orcid.org/0000-0003-4633-4199)
- Yue Zhang (ORCID: https://orcid.org/0000-0001-6682-0093)
- Yang Liu (ORCID: https://orcid.org/0000-0003-4559-5119)
- Huai‐Dong Song (ORCID: https://orcid.org/0000-0002-9609-5803)
- Chenyang Wu (ORCID: https://orcid.org/0009-0000-2783-8485)
Institutions
- Shanghai Jiao Tong University (CN)
- Nantong University (CN)
- Affiliated Hospital of Nantong University (CN)
- Shanghai Ninth People's Hospital (CN)
- Fujian Provincial Hospital (CN)
Publication Details
- Journal
- European Journal of Endocrinology
- Published
- 2025-06-13
- DOI
- https://doi.org/10.1093/ejendo/lvaf123
- Primary Topic
- Thyroid Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00