The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update
原发性双侧肾上腺大结节性增生症中ARMC5基因的突变图谱:最新进展
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-03554-1
Bouys, Lucas; Vaczlavik, Anna; Cavalcante, Isadora P; Violon, Florian; Jouinot, Anne; Berthon, Annabel; Vaduva, Patricia; Espiard, Stéphanie; Perlemoine, Karine; Kamenicky, Peter; Vantyghem, Marie-Christine; Tabarin, Antoine; Raverot, Gérald; Ronchi, Cristina L; Dischinger, Ulrich; Reincke, Martin; Fragoso, Maria C; Stratakis, Constantine A; Chansavang, Albain; Pasmant, Eric; Ragazzon, Bruno; Bertherat, Jérôme