Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing's disease

Laura C. Hernández-Ramírez, Ryhem Gam, Nuria Valdés, Maya B. Lodish, Nathan Pankratz, Aurelio Balsalobre, Yves Gauthier, Fabio R. Faucz, Giampaolo Trivellin, Prashant Chittiboina, John Lane, Denise M. Kay, Aggeliki Dimopoulos, Stephan Gaillard, Mario Neou, Jérôme Bertherat, Guillaume Assié, Chiara Villa, James L. Mills, Jacques DrouinConstantine A. Stratakis

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Medicine & Life Sciences