2023
A De Novo Deleterious PHEX Variant Without Clinical Features of X-Linked Hypophosphatemia
Kayser M, Jain P, Bale A, Carpenter T. A De Novo Deleterious PHEX Variant Without Clinical Features of X-Linked Hypophosphatemia. JCEM Case Reports 2023, 1: luad082. PMID: 37908207, PMCID: PMC10586592, DOI: 10.1210/jcemcr/luad082.Peer-Reviewed Original ResearchSkewed X-inactivationFibroblast growth factor 23Growth factor 23Intrauterine growth restrictionSingle nucleotide polymorphismsDiagnosis of XLHClinical featuresFactor 23Duodenal atresiaRadiographic featuresGrowth restrictionPostnatal genetic testingAndrogen receptor locusPotential treatmentGenetic testingHypophosphatemiaXLHHereditary ricketsDominant disorderPrenatal identificationCommon formHemizygous malesHeterozygous disruptionRicketsHeterozygous females
2012
Vitamin D binding protein is a key determinant of 25‐hydroxyvitamin D levels in infants and toddlers
Carpenter TO, Zhang JH, Parra E, Ellis BK, Simpson C, Lee WM, Balko J, Fu L, Wong B, Cole D. Vitamin D binding protein is a key determinant of 25‐hydroxyvitamin D levels in infants and toddlers. Journal Of Bone And Mineral Research 2012, 28: 213-221. PMID: 22887780, PMCID: PMC3511814, DOI: 10.1002/jbmr.1735.Peer-Reviewed Original ResearchConceptsD binding proteinGC single nucleotide polymorphismsVitamin D binding proteinSingle nucleotide polymorphismsD levelsVitamin D deficiencyVitamin D statusSerum DBP levelsAfrican AmericansD deficiencyD statusCommon single nucleotide polymorphismsNutritional determinantsGC genotypeLarge cohortAIM scoresMultivariate analysisDBP levels