Three Patient Kindred with a Novel Phenotype of Osteogenesis Imperfecta due to a COL1A1 Variant
Gupta N, Gregory S, Deyle D, Tebben P. Three Patient Kindred with a Novel Phenotype of Osteogenesis Imperfecta due to a COL1A1 Variant. Journal Of Clinical Research In Pediatric Endocrinology 2021, 0: 0-0. PMID: 32519829, PMCID: PMC8186326, DOI: 10.4274/jcrpe.galenos.2020.2020.0012.Peer-Reviewed Original ResearchMeSH KeywordsAdultBone Density Conservation AgentsChild, PreschoolCollagen Type I, alpha 1 ChainDiphosphonatesFemaleFractures, BoneHumansInfantMaleOsteogenesis ImperfectaPedigreePhenotypeConceptsNontraumatic fracturesOsteogenesis imperfectaBisphosphonate therapyPhenotype of OIExtra-skeletal manifestationsIntravenous bisphosphonate therapyProgressive bone deformitiesBone deformitiesLong bone fracturesCOL1A1 variantMonth of birthPatient 2Fracture ratesPatient's kindredBone fracturesPatientsAffected membersUnique phenotypeMonthsTherapyImperfectaKindredVariant databasesPhenotypeAge