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The Mutational Landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an Update

Lucas Bouys,Anna Vaczlavik,Isadora P. Cavalcante,Florian Violon,Anne Jouinot,Annabel Berthon,Patricia Vaduva,Stéphanie Espiard,Karine Perlemoine,Peter Kamenicky,Marie-Christine Vantyghem,Antoine Tabarin,Gérald Raverot,Cristina L. Ronchi,Ulrich Dischinger,Martin Reincke,Maria C. Fragoso,Constantine A. Stratakis,Albain Chansavang,Eric Pasmant,Bruno Ragazzon,Jérôme Bertherat

Orphanet Journal of Rare Diseases（2025）

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Key words
ARMC5,Genetics,Adrenal gland,Cushing’s syndrome,Primary Bilateral Macronodular Adrenal Hyperplasia,Cortisol,ACTH
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