关键词: P3H1 osteogenesis imperfecta retinal detachment
Mesh : Adolescent Adult Child Collagen Type I / genetics Female Fibroblasts / metabolism Genetic Predisposition to Disease Humans Male Membrane Glycoproteins / genetics Middle Aged Mutation Osteogenesis Imperfecta / complications genetics pathology Prolyl Hydroxylases / genetics Proteoglycans / genetics Retinal Detachment / complications genetics pathology Sclera / pathology Young Adult
来 源: DOI:10.1002/ajmg.a.61934 PDF(Sci-hub)