Compound heterozygous mutations in COL1A1 associated with an atypical form of type I osteogenesis imperfecta - Ackermann, Amanda M.; Levine, Michael A. (American journal of medical genetics. Part A, 2017)
Keywords: biallelic mutations; Bone mass; Bone strength; Children; collagen; Collagen (type I); Ehlers-Danlos syndrome; Fractures; Frameshift mutation; Heterozygotes; Long bone; Missense mutation; Mutation; Osteogenesis; Osteogenesis imperfecta; Procollagen; Siblings; collagen; Ehlers-Danlos syndrome; osteogenesis imperfecta; biallelic mutations