Novel variant causing OTUD6B-related syndrome with ocular dysplasia and hypothyroidism: the first Chinese case
OTUD6B defects correlate with multiple organ abnormalities, possibly including ocular developmental anomalies. Further investigation is required to investigate the association between the newly identified variants c.479A > G or c.83-1delG and ocular development.
Authors
- Juan Hu (ORCID: https://orcid.org/0000-0002-4750-9803)
- Weiyue Gu (ORCID: https://orcid.org/0000-0003-4735-0780)
- Ke Xu (ORCID: https://orcid.org/0000-0002-2796-6177)
- Jingjing Li (ORCID: https://orcid.org/0000-0002-2882-2474)
- Jing Chen (ORCID: https://orcid.org/0000-0002-2681-0349)
- Hongmin Zhu (ORCID: https://orcid.org/0000-0002-7085-5894)
- Dan Gao (ORCID: https://orcid.org/0000-0002-0134-5030)
Institutions
- Wuhan Children's Hospital (CN)
Publication Details
- Journal
- BMC Pediatrics
- Published
- 2025-11-04
- DOI
- https://doi.org/10.1186/s12887-025-06272-6
- Primary Topic
- Ocular Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00