Associated Papers
High bone mass phenotype in a cohort of patients with Osteogenesis Imperfecta caused due to BMP1 and C-propeptide cleavage variants in COL1A1.
Campanini EH et al.
Bone Reports, 2021
Novel homozygous variant in BMP1 associated with a rare osteogenesis imperfecta phenotype.
Choksi IN et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2021
Novel mutations in BMP1 induce a rare type of osteogenesis imperfecta.
Xu XJ et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019
Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report.
Sangsin A et al.
Bmc Medical Genetics, 2017
Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.
Cho SY et al.
Human Mutation, 2015
Select a paper to view details