Genetic Associations with Pectus Excavatum: A Systematic Review
Current genetic evidence for PE is largely derived from rare variants and family-based studies, with no population-level GWAS available. This critical gap limits causal inference, underscoring the urgent need for large-scale international GWAS to identify common variants and clarify the genetic architecture of PE.
Authors
- Nafiz Imtiaz (ORCID: https://orcid.org/0009-0001-5593-4455)
- Benjamin R. Waterhouse (ORCID: https://orcid.org/0000-0002-6277-8833)
- Redoy Ranjan (ORCID: https://orcid.org/0000-0003-1927-5023)
- Ian Paul
- Joel Dunning
Institutions
- Royal Holloway University of London (GB)
- North East London NHS Foundation Trust (GB)
- East London NHS Foundation Trust (GB)
- James Cook University Hospital (GB)
- South Tees Hospitals NHS Foundation Trust (GB)
Publication Details
- Journal
- Current Issues in Molecular Biology
- Published
- 2026-01-22
- DOI
- https://doi.org/10.3390/cimb48010122
- Citations
- 1
- Primary Topic
- Pectus Deformity Diagnosis and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 39.15