A novel compound heterozygous mutation in ADAMTS17 identified in a Chinese family with Weill-Marchesani syndrome
A novel compound heterozygous mutation in <i>ADAMTS17</i> is identified in this WMS-affected Chinese family, and its pathogenicity is verified <i>via</i> bioinformatics analysis and protein structural modeling. These findings are expected to facilitate the genetic diagnosis of WMS and deepen the understanding of its molecular pathogenesis.
Authors
- Hao-Yue Wu
- Cheng Pei
- Si-Wei Liu
Institutions
- First Affiliated Hospital of Xi'an Jiaotong University (CN)
Publication Details
- Journal
- International Journal of Ophthalmology
- Published
- 2026-02-12
- DOI
- https://doi.org/10.18240/ijo.2026.02.04
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00