ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome.

doi:10.1056/NEJMoa1304603

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Article

ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome.

The New England journal of medicine - 28 Nov 2013

Assié Guillaume, Libé Rossella, Espiard Stéphanie, Rizk-Rabin Marthe, Guimier Anne, Luscap Windy, Barreau Olivia, Lefèvre Lucile, Sibony Mathilde, Guignat Laurence, Rodriguez Stéphanie, Perlemoine Karine, René-Corail Fernande, Letourneur Franck, Trabulsi Bilal, Poussier Alix, Chabbert-Buffet Nathalie, Borson-Chazot Françoise, Groussin Lionel, Bertagna Xavier, Stratakis Constantine A, Ragazzon Bruno, Bertherat Jérôme

Abstract excerpt

BACKGROUND: Corticotropin-independent macronodular adrenal hyperplasia may be an incidental finding or it may be identified during evaluation for Cushing's syndrome. Reports of familial cases and the involvement of both adrenal glands suggest a genetic origin of this condition. METHODS: We genotyped blood and tumor DNA obtained from 33 patients with corticotropin-independent macronodular adrenal hyperplasia (12...

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PMID: 24283224
DOI: 10.1056/NEJMoa1304603
PMCID: PMC4727443

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