KDM1A genetic alterations, a rare cause of primary bilateral macronodular adrenal hyperplasia, strongly associated with food-dependent Cushing's syndrome: results of its systematic germline screening in 301 index cases and genotype/phenotype correlation
Year: 2025
Type: article
Study design: Observational Study
Authors: Lucas Bouys, Patricia Vaduva, Anne Jouinot, Florian Violon, Anna Vaczlavik, Maxime Barat, Helaine Charchar, Fanny Chasseloup, Crystal Kamilaris, Stéphanie Espiard, Magalie Haissaguerre, Gérald Raverot, Matthias Kroiss, Annabel Berthon, Karine Perlemoine, Igor Tauveron, Laurence Guignat, Rossella Libé, Lionel Groussin, Guillaume Assié, Eric Pasmant, Martin Reincke, Françoise Borson-Chazot, Amandine Ferrière, Marie-Christine Vantyghem, Constantine A Stratakis, Peter Kamenický, Maria Candida Barisson Villares Fragoso, Albain Chansavang, Bruno Ragazzon, Jérôme Bertherat
Institutions: Centre National de la Recherche Scientifique, Inserm, Université Paris Cité, Hôpital Cochin, Assistance Publique – Hôpitaux de Paris, Institut Cochin, Universidade de São Paulo, Université Paris-Saclay, Bicêtre Hospital, Physiologie et Physiopathlogie Endocriniennes, National Institutes of Health, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Centre Hospitalier Universitaire de Lille, Recherche translationnelle sur le diabète et les troubles métaboliques, Centre Hospitalier Universitaire de Bordeaux, Hospices Civils de Lyon, LMU Klinikum, Ludwig-Maximilians-Universität München, Centre Hospitalier Universitaire de Clermont-Ferrand, FORTH Institute of Molecular Biology and Biotechnology, Foundation for Research and Technology Hellas
Language: English
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: closed
OpenAlex ID: W4407265125