2020
A Novel Variant in the Calcium‐Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low‐to‐Normal PTH
Majumdar SK, Jacob T, Bale A, Bailey A, Kwon J, Hughes T, Barbieri AL, Laskin W, Cohen P, Carling TJE. A Novel Variant in the Calcium‐Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low‐to‐Normal PTH. Case Reports In Endocrinology 2020, 2020: 8752610. PMID: 33062349, PMCID: PMC7555459, DOI: 10.1155/2020/8752610.Peer-Reviewed Case Reports and Technical NotesFamilial hypocalciuric hypercalcemiaLow urinary calcium excretionUrinary calcium excretionCalcium excretionSerum calciumHypocalciuric hypercalcemiaCalcium-sensing receptor geneElevated set pointOsteitis fibrosa cysticaNovel heterozygous variantElevated calcitriolParathyroid histologyIntact PTHMild hypercalcemiaSubtotal parathyroidectomyFibrosa cysticaPrimary hyperparathyroidismMild elevationNormal PTHClinical manifestationsNovel variantsBony findingsBony lesionsCASR geneParathyroid glands
1997
Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome
Kimonis V, Goldstein A, Pastakia B, Yang M, Kase R, DiGiovanna J, Bale A, Bale S. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. American Journal Of Medical Genetics 1997, 69: 299-308. PMID: 9096761, DOI: 10.1002/(sici)1096-8628(19970331)69:3<299::aid-ajmg16>3.0.co;2-m.Peer-Reviewed Original ResearchConceptsBasal cell carcinomaNevoid basal cell carcinoma syndromeBasal cell carcinoma syndromeMean ageCell carcinomaFirst tumorJaw cystsCarcinoma syndromePlantar pitsNumber of BCCsFalx cerebriPalmar/plantar pitsMultiple basal cell carcinomasAffected individualsAutosomal dominant disorderImportant radiological signsOvarian fibromaUS patientsClinical manifestationsPercent of whitesRadiological signsPhysical findingsBifid ribsSprengel's deformityRadiation therapy