2024
Familial hypocalciuric hypercalcemia in an infant: diagnosis and management quandaries
Goldsweig B, Yilmaz R, Waikar A, Brownstein C, Carpenter T. Familial hypocalciuric hypercalcemia in an infant: diagnosis and management quandaries. Journal Of Bone And Mineral Research 2024, 39: 1406-1411. PMID: 39163488, DOI: 10.1093/jbmr/zjae137.Peer-Reviewed Original ResearchFamilial hypocalciuric hypercalcemiaCalcium-sensing receptor geneLow calcium formulaParathyroid hormoneHypocalciuric hypercalcemiaSerum calciumUrinary calcium excretionElevated serum calciumAutosomal-dominant mannerWhole-exome sequencingExtracellular calcium-sensingMonths of ageMild hyperparathyroidismPTH levelsCalcium excretionIdiopathic hypoparathyroidismNewborn girlInactivating variantsRare formPathogenic variantsDownstream signaling proteinsManagement quandaryBenign conditionsReceptor geneExome sequencing
2016
An Unusual Case of Rickets and How Whole Exome Sequencing Helped to Correct a Diagnosis
Peter P, Brownstein C, Yao G, Olear E, Simpson C, Agrawal P, Carpenter T, Insogna K. An Unusual Case of Rickets and How Whole Exome Sequencing Helped to Correct a Diagnosis. AACE Clinical Case Reports 2016, 2: ee278-ee283. DOI: 10.4158/ep15944.cr.Peer-Reviewed Original ResearchWhole-exome sequencingForms of ricketsExome sequencingGrowth factor 23Classic clinical featuresClinical suspicionClinical featuresClinical presentationFactor 23Parathyroid hormoneDihydroxyvitamin D3Correct diagnosisMistaken diagnosisUnusual caseNutritional deficienciesRicketsPatientsDiagnosisDiseaseHypophosphatemiaGenetic defectsCompound heterozygotesCYP27B1Gene sequencing technologyXLH
2013
Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23–related hypophosphatemia, dental anomalies, and ectopic calcification
Rafaelsen SH, Ræder H, Fagerheim AK, Knappskog P, Carpenter TO, Johansson S, Bjerknes R. Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23–related hypophosphatemia, dental anomalies, and ectopic calcification. Journal Of Bone And Mineral Research 2013, 28: 1378-1385. PMID: 23325605, DOI: 10.1002/jbmr.1850.Peer-Reviewed Original ResearchConceptsFibroblast growth factor 23Growth factor 23Factor 23Dental anomaliesExome sequencingAbsence of ricketsFAM20C mutationsCompound heterozygous mutationsWhole-exome sequencingIntracerebral calcificationsFGF23 levelsFamilial hypophosphatemiaHypophosphatemic ricketsEctopic calcificationHypophosphatemiaPutative new mechanismsType 1Heterozygous mutationsUndiagnosed probandsLong bonesNorwegian populationCausal roleHuman subjectsSequence similarity 20Rickets