A Splice Acceptor Variant in DLL3 Is Associated with Spondylocostal Dysostosis in a Litter of Mixed-Breed Dogs
This study identifies a DLL3 splice variant causing SCDO in dogs, demonstrating phenotypic conservation with humans. These findings refine our understanding of genotype-phenotype correlations and demonstrate the value of comparative genomics for rare developmental disorders.
Authors
- Danika L. Bannasch (ORCID: https://orcid.org/0000-0002-7614-7207)
- Craig S. Brown
- Scarlett Varney
- Julia Vo
- Christine M. Toedebusch (ORCID: https://orcid.org/0000-0002-3216-3344)
- Karen Vernau
Institutions
- University of California, Davis (US)
Publication Details
- Journal
- Genes
- Published
- 2026-01-26
- DOI
- https://doi.org/10.3390/genes17020131
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00