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
2013
Clinical spectrum of hypophosphatasia diagnosed in adults
Berkseth K, Tebben P, Drake M, Hefferan T, Jewison D, Wermers R. Clinical spectrum of hypophosphatasia diagnosed in adults. Bone 2013, 54: 21-27. PMID: 23352924, DOI: 10.1016/j.bone.2013.01.024.Peer-Reviewed Original ResearchConceptsMusculoskeletal painAbsence of genetic testingUrine phosphoethanolamineHistory of fractureAdult hypophosphatasiaHip/femoral neckClinical manifestationsClinical spectrum of hypophosphatasiaSubtrochanteric femur fracturesIncident fracturesLow serum alkaline phosphataseDiagnostic codesIliac crest bone biopsiesAlkaline phosphataseFracture patientsFamily historyConsistent with osteomalaciaEvidence of osteomalaciaInclusion criteriaGenetic testingFemur fracturesMedical recordsSerum alkaline phosphataseSymptomatic subjectsRadiographic chondrocalcinosis