[Clinical phenotype and genetic analysis of a fetus with a novel mutation of OTX2 gene].
The heterozygous frameshift variant (NM_021728.4: c.706_725del) of the OTX2 gene probably underlay the pathogenesis of this fetus. Above finding has expanded the mutational spectrum of OTX2 gene and may contribute to the understanding of syndromic microphthalmia.
Authors
- Ying Zhou (ORCID: https://orcid.org/0000-0001-5393-8340)
- Changshui Chen (ORCID: https://orcid.org/0000-0001-5943-9577)
- Lulu Yan (ORCID: https://orcid.org/0000-0002-3402-7637)
- Haibo Li
- Yuxin Zhang (ORCID: https://orcid.org/0000-0003-3220-5126)
Institutions
- Ningbo University Affiliated Hospital (CN)
Publication Details
- Journal
- PubMed
- Published
- 2025-08-10
- DOI
- https://doi.org/10.3760/cma.j.cn511374-20250217-00077
- Primary Topic
- Medical and Biological Sciences
- Type
- article
- Field-Weighted Citation Impact
- 0.00