3M syndrome with novel CUL7 variants in a Chinese patient: a case report
Herein, we describe a Chinese patient with 3M syndrome caused by novel biallelic pathogenic variants in <i>CUL7</i> from a non-consanguineous family, expanding the genetic spectrum of <i>CUL7</i> in the Chinese population.
Authors
- Hongfang Ding (ORCID: https://orcid.org/0000-0002-8603-824X)
- Shuaishuai Han
- Hui Liu (ORCID: https://orcid.org/0000-0003-3974-0930)
- Weicai Suo
- Yizhong Wang (ORCID: https://orcid.org/0000-0003-0964-3849)
- G. Liu (ORCID: https://orcid.org/0000-0002-6272-806X)
Institutions
- Shanghai Jiao Tong University (CN)
- Shengli Oilfield Central Hospital (CN)
- Shanghai Children's Hospital (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2025-10-29
- DOI
- https://doi.org/10.3389/fped.2025.1652826
- Primary Topic
- Complement system in diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China