2023
X-linked hypophosphatemia in 4 generations due to an exon 13–15 duplication in PHEX, in the absence of the c.*231A>G variant
Soto Barros J, Sanchez S, Cabral K, Beggs A, Agrawal P, Genetti C, Brownstein C, Carpenter T. X-linked hypophosphatemia in 4 generations due to an exon 13–15 duplication in PHEX, in the absence of the c.*231A>G variant. Bone 2023, 172: 116763. PMID: 37059315, PMCID: PMC10198939, DOI: 10.1016/j.bone.2023.116763.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