Novel COL5A1 variants and associated disease phenotypes in dogs with classical Ehlers-Danlos syndrome.

Garrett BullockJared A JaffeyLeah A CohnErika SoxEric T HostnikKyle D HutchesonErin MateroKaren S HoffmannGary S JohnsonMartin L Katz

Published in: Journal of veterinary internal medicine (2024)

We describe the genotypic and phenotypic spectrum of the classical subtype of EDS by identifying 6 novel COL5A1 variants in conjunction with detailed clinical histories that included long-term follow-up information in 7 dogs.

Keyphrases

copy number
healthcare
gene expression
dna methylation