Case Report: Compound heterozygous familial hypercholesterolemia in a pediatric patient with multiple cutaneous xanthomas
) gene through whole-exome sequencing (WES), including c.682G > A and the rarely reported c.1187-10G > A variant. This case provides key insights into the association between these mutations, the clinical phenotype, and treatment response.
Authors
- Shuai Liu (ORCID: https://orcid.org/0000-0002-0699-2296)
- Lihong Jiang (ORCID: https://orcid.org/0000-0002-3042-6817)
- Xinyi Wei
- Xinyang Lv
- Qian Yang
Institutions
- Tianjin Medical University General Hospital (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2026-03-31
- DOI
- https://doi.org/10.3389/fped.2026.1752339
- Primary Topic
- Lipoproteins and Cardiovascular Health
- Type
- article
- Field-Weighted Citation Impact
- 0.00