Novel somatic mutations in primary hyperaldosteronism are related to the clinical, radiological and pathological phenotype
Scholl UI, Healy JM, Thiel A, Fonseca AL, Brown TC, Kunstman JW, Horne MJ, Dietrich D, Riemer J, Kücükköylü S, Reimer EN, Reis AC, Goh G, Kristiansen G, Mahajan A, Korah R, Lifton RP, Prasad ML, Carling T. Novel somatic mutations in primary hyperaldosteronism are related to the clinical, radiological and pathological phenotype. Clinical Endocrinology 2015, 83: 779-789. PMID: 26252618, PMCID: PMC4995792, DOI: 10.1111/cen.12873.Peer-Reviewed Original ResearchMeSH KeywordsAdultBeta CateninCalcium Channels, L-TypeFemaleG Protein-Coupled Inwardly-Rectifying Potassium ChannelsHumansHyperaldosteronismMaleMiddle AgedMutationPlasma Membrane Calcium-Transporting ATPasesRetrospective StudiesSodium-Potassium-Exchanging ATPaseConceptsAldosterone-producing adenomaAdrenal hyperplasiaHyperplastic adrenal glandsUnilateral adrenal hyperplasiaClinical pathological featuresBilateral adrenal hyperplasiaSomatic mutationsNovel somatic mutationsPredominant histologySecondary hypertensionPrimary hyperaldosteronismRetrospective studyAdrenal glandPathological characteristicsMale genderClear cellsCACNA1D mutationsComputed tomographyImportant causeTumorsKCNJ5HyperplasiaAdenomasExome sequencingPathological phenotypes