Reliability of clinical impressions and optimal genetic diagnostic strategies of heritable connective tissue disorders with ocular involvement in a large Chinese cohort
This study broadens the mutational spectrum of HCTDs with 31 novel variants. By employing innovative methodologies to delineate phenotype-genotype relationships, including the detection of potentially pathogenic variants, this work may inform future diagnostic strategies and guide comprehensive disease and organ system monitoring. Ongoing refinement and vigilant clinical oversight remain essential for patients and their families.
Authors
- Yuqiao Ju
- Yuan Zong (ORCID: https://orcid.org/0000-0002-0178-990X)
- Fengjuan Gao (ORCID: https://orcid.org/0000-0002-2799-3554)
- Ting Zhang (ORCID: https://orcid.org/0000-0002-8328-8200)
- Xin Huang (ORCID: https://orcid.org/0000-0002-1248-9996)
- Qing Chang (ORCID: https://orcid.org/0000-0003-3733-8980)
- Qinmeng Shu
Institutions
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Eye & ENT Hospital of Fudan University (CN)
- Shandong Eye Hospital (CN)
Publication Details
- Journal
- Human Genomics
- Published
- 2025-04-09
- DOI
- https://doi.org/10.1186/s40246-025-00749-2
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Shanghai Hospital Development Center