2021
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 ResearchConceptsNontraumatic 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
2016
Clinical and biochemical phenotypes of adults with monoallelic and biallelic CYP24A1 mutations: evidence of gene dose effect
O’Keeffe D, Tebben P, Kumar R, Singh R, Wu Y, Wermers R. Clinical and biochemical phenotypes of adults with monoallelic and biallelic CYP24A1 mutations: evidence of gene dose effect. Osteoporosis International 2016, 27: 3121-3125. PMID: 27129455, DOI: 10.1007/s00198-016-3615-6.Peer-Reviewed Original ResearchConceptsMonoallelic mutationsGene dose effectCYP24A1 mutationsCYP24A1 geneBiallelic mutationsBiochemical phenotypeDisease manifestationsElevated serum 1,25(OH)2DBone turnover markersMutations of CYP24A1Dose effectCompound heterozygous mutationsVitamin D metabolitesLow PTH concentrationsSerum 1,25(OH)2DUrine calciumResultsThe probandTurnover markersUrinary calciumHeterozygous mutationsPTH concentrationsD metabolitesSequence informationIntroductionThe objectiveMedical history