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 ResearchConceptsAldosterone-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