The molecular characterization of seven novel GLI family zinc finger 3 (GLI3) variants in Chinese families with limb malformations
Ten <i>GLI3</i> variants were successfully identified in families with different limb malformations, indicating significant clinical and allelic heterogeneity of <i>GLI3</i>-related limb malformations. The present study expands the spectra of pathogenic variants and clinical manifestation for <i>GLI3</i>-related morphological disorder and provides solid evidence for genetic counseling and prenatal gene diagnosis in the affected families.
Authors
- Tao Siyuan
- Xiuli Zhao (ORCID: https://orcid.org/0000-0001-8238-6311)
- Xuyu Gu (ORCID: https://orcid.org/0000-0001-7739-5301)
- Xiaofang Shen (ORCID: https://orcid.org/0000-0002-5245-0463)
- Xiaodong Wang (ORCID: https://orcid.org/0000-0002-0164-1251)
Institutions
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Peking Union Medical College Hospital (CN)
- Soochow University (CN)
- Children's Hospital of Suzhou University (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-10-09
- DOI
- https://doi.org/10.3389/fgene.2025.1650790
- Primary Topic
- Hedgehog Signaling Pathway Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00