<i>AUTS2</i> disruption underlies radioulnar synostosis and skeletal dysmorphogenesis: evidence from four unrelated cases
This study establishes <i>AUTS2</i> as a critical regulator of skeletal development, with molecular disruptions directly linked to RUS pathogenesis and broader skeletal dysmorphogenesis.
Authors
- Zhuo Li (ORCID: https://orcid.org/0000-0001-6010-6139)
- Hua Wang (ORCID: https://orcid.org/0009-0006-4082-4292)
- Lee C. Zhao (ORCID: https://orcid.org/0000-0002-4029-0669)
- Yongjia Yang (ORCID: https://orcid.org/0000-0002-8673-1589)
- Cheng Liu (ORCID: https://orcid.org/0000-0002-3143-7104)
- Chen Yang (ORCID: https://orcid.org/0000-0002-6371-5930)
- Guanghui Zhu (ORCID: https://orcid.org/0000-0003-1418-2768)
- Mei Deng (ORCID: https://orcid.org/0000-0003-0480-5730)
- Fang Shen
Institutions
- Drexel University Elkins Park Campus (US)
- Central South University (CN)
- Changsha Medical University (CN)
- Hunan Children's Hospital (CN)
- University of South China (CN)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2025-07-16
- DOI
- https://doi.org/10.1136/jmg-2025-110886
- Citations
- 1
- Primary Topic
- RNA Research and Splicing
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- National Natural Science Foundation of China
- Natural Science Foundation of Hunan Province