SUN-LB19 Novel Homozygous Mutation in BMP1 Causing Osteogenesis Imperfecta
Choksi I, Carpenter T, Robinson C. SUN-LB19 Novel Homozygous Mutation in BMP1 Causing Osteogenesis Imperfecta. Journal Of The Endocrine Society 2020, 4: sun-lb19. PMCID: PMC7209160, DOI: 10.1210/jendso/bvaa046.2020.Peer-Reviewed Original ResearchVertebral compression fracturesOsteogenesis imperfectaNovel homozygous mutationRare formMultiple vertebral compression fracturesBilateral tibial fracturesNormal serum calciumHigh-resolution peripheral quantitative CTHomozygous mutationLumbar spine BMDTotal hip BMDVertebral height lossEffectiveness of bisphosphonatesFemoral neck BMDProtein 1Age 6 yearsAge 2.5 yearsPeripheral quantitative CTGross motor delayAutosomal recessive osteogenesis imperfectaBroad phenotypic spectrumBP therapySpinal osteopeniaSubtle facial dysmorphismSymptomatic relief