Article
Novel somatic mutations in primary hyperaldosteronism are related to the clinical, radiological and pathological phenotype.
Clinical endocrinology - 1 Dec 2015
Scholl Ute I, Healy James M, Thiel Anne, Fonseca Annabelle L, Brown Taylor C, Kunstman John W, Horne Matthew J, Dietrich Dimo, Riemer Jasmin, Kücükköylü Seher, Reimer Esther N, Reis Anna-Carinna, Goh Gerald, Kristiansen Glen, Mahajan Amit, Korah Reju, Lifton Richard P, Prasad Manju L, Carling Tobias
Abstract excerpt
UNLABELLED: Aldosterone-producing adenomas (APAs) and bilateral adrenal hyperplasia are important causes of secondary hypertension. Somatic mutations in KCNJ5, CACNA1D, ATP1A1, ATP2B3 and CTNNB1 have been described in APAs. OBJECTIVE: To characterize clinical-pathological features in APAs and unilateral adrenal hyperplasia, and correlate them with genotypes. DESIGN: Retrospective study. SUBJECTS AND MEASUREMENTS:...
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