Patients with Two Mutated Collagen Genes Have Both EDS, OI, Study Reports
Patients with mutations in the COL5A1 and COL1A1 genes that code for collagen proteins have both Ehlers-Danlos syndrome (EDS) and a bone disease called osteogenesis imperfecta (OI), according to a study in a Chinese family. The research, “Compound phenotype of osteogenesis imperfecta and Ehlers-Danlos…