A study identifies rare type 1 collagen variants in early-onset bicuspid aortic valve disease, revealing clinical and genetic overlaps with Ehlers-Danlos syndrome and osteogenesis imperfecta. This research enhances understanding of these connective tissue disorders.
rare type 1 collagen variants in early onset bicuspid aortic valve disease clinical and genetic overlap with ehlers danlos syndrome and osteogenesis imperfecta
Original title: “Rare Type 1 Collagen Variants in Early-Onset Bicuspid Aortic Valve Disease: Clinical and Genetic Overlap with Ehlers-Danlos Syndrome and Osteogenesis Imperfecta.”