A case of congenital heart defects and familial exudative vitreoretinopathy caused by activation of a cryptic splice donor in NOTCH1
We expand the phenotypic spectrum of NOTCH1 and contribute to the building evidence that variants in NOTCH1 cause a spectrum of disorders of vascular development.
Authors
- Joseph Farris (ORCID: https://orcid.org/0000-0001-7691-8334)
- Lisa A. Schimmenti (ORCID: https://orcid.org/0000-0003-3154-4249)
- Eric W. Klee (ORCID: https://orcid.org/0000-0003-2946-5795)
- Madeline Q.R. Lopour
- Laura Lambert
- Kahlen Darr
- Brittni A. Scruggs (ORCID: https://orcid.org/0000-0001-8806-1438)
- Camila Dergam-Larson
Institutions
- Mayo Clinic (US)
- Mayo Clinic in Arizona (US)
- Mayo Clinic in Florida (US)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2025-05-26
- DOI
- https://doi.org/10.1186/s12920-025-02160-1
- Primary Topic
- Cerebrovascular and genetic disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Center for Individualized Medicine, Mayo Clinic