Skeletal disease in a father and daughter with a novel monoallelic WNT1 mutation
Ang K, Rangel E, Yuan Q, Wu D, Carpenter TO, Insogna K. Skeletal disease in a father and daughter with a novel monoallelic WNT1 mutation. Bone Reports 2018, 9: 154-158. PMID: 30364642, PMCID: PMC6197702, DOI: 10.1016/j.bonr.2018.09.001.Peer-Reviewed Original ResearchLow bone mineral densityLow bone massBone mineral densityWNT1 mutationsMineral densityMonoallelic mutationsBone massSame heterozygous missense mutationLow-impact fracturesExtra-skeletal manifestationsSevere osteogenesis imperfectaCanonical Wnt-β-catenin pathwayWnt-β-catenin pathwayType 1 collagen genesType 1 collagenHeterozygous missense mutationAdult skeletal homeostasisTraumatic fracturesSevere diseaseBiallelic diseaseIndex caseTherapeutic benefitRelated patientsSkeletal homeostasisSkeletal disease