Expanding the phenotype of CARS1 variants to include congenital hyperinsulinism
This report identifies two novel variants in CARS1 and expands the phenotype of this multisystem disorder to include congenital hyperinsulinism.
Authors
- Andrew C. Edmondson (ORCID: https://orcid.org/0000-0003-0313-0743)
- Victoria R. Sanders
- Diva D. De León (ORCID: https://orcid.org/0000-0003-1225-8087)
- Albert C. Yan (ORCID: https://orcid.org/0000-0002-8403-8780)
Institutions
- Children's Hospital of Philadelphia (US)
- University of Pennsylvania (US)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2025-10-21
- DOI
- https://doi.org/10.1186/s12920-025-02237-x
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Institutes of Health