2019
Missense mutations in ENPP1 result in osteoporosis in patients and is recapitulated in the ENPP1 loss of function murine model
Braddock D, Oheim R, Zimmerman K, Kavanagh D, Horowitz M, Carpenter T. Missense mutations in ENPP1 result in osteoporosis in patients and is recapitulated in the ENPP1 loss of function murine model. Bone Abstracts 2019 DOI: 10.1530/boneabs.7.p64.Peer-Reviewed Original Research
2001
Mutational Analysis and Genotype-Phenotype Correlation of the PHEX Gene in X-Linked Hypophosphatemic Rickets
Holm I, Nelson A, Robinson B, Mason R, Marsh D, Cowell C, Carpenter T. Mutational Analysis and Genotype-Phenotype Correlation of the PHEX Gene in X-Linked Hypophosphatemic Rickets. The Journal Of Clinical Endocrinology & Metabolism 2001, 86: 3889-3899. PMID: 11502829, DOI: 10.1210/jcem.86.8.7761.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAmino Acid SubstitutionBone DiseasesChildDNA Mutational AnalysisExonsFamilyFemaleGenotypeHumansHypophosphatemia, FamilialMaleMiddle AgedMutationMutation, MissenseNuclear FamilyPhenotypePHEX Phosphate Regulating Neutral EndopeptidaseProteinsSequence DeletionTooth DiseasesConceptsHypophosphatemic ricketsRickets patientsHypophosphatemic rickets patientsSevere skeletal diseasePHEX mutationsSeverity of diseaseFamily membersGenotype-phenotype correlationPrognostic valueFamily historyPatientsPostpubertal malesEarly identificationSkeletal diseaseGenetic testingRicketsTruncating mutationsDental phenotypeAffected individualsMild phenotypePHEX geneDiseaseMissense mutationsDifferent mutationsSeverity