KDM1A inactivation causes hereditary food-dependent Cushing syndrome

This study aimed to investigate the genetic cause of food-dependent Cushing syndrome (FDCS) observed in patients with primary bilateral macronodular adrenal hyperplasia (PBMAH) and adrenal ectopic expression of the glucose-dependent insulinotropic polypeptide receptor. Germline ARMC5 alterations hav...

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Veröffentlicht in:	Genetics in medicine 2022-02, Vol.24 (2), p.374-383
Hauptverfasser:	Vaczlavik, Anna, Bouys, Lucas, Violon, Florian, Giannone, Gaetan, Jouinot, Anne, Armignacco, Roberta, Cavalcante, Isadora P., Berthon, Annabel, Letouzé, Eric, Vaduva, Patricia, Barat, Maxime, Bonnet, Fidéline, Perlemoine, Karine, Ribes, Christopher, Sibony, Mathilde, North, Marie-Odile, Espiard, Stéphanie, Emy, Philippe, Haissaguerre, Magalie, Tauveron, Igor, Guignat, Laurence, Groussin, Lionel, Dousset, Bertrand, Reincke, Martin, Fragoso, Maria C., Stratakis, Constantine A., Pasmant, Eric, Libé, Rossella, Assié, Guillaume, Ragazzon, Bruno, Bertherat, Jérôme
Format:	Artikel
Sprache:	eng
Schlagworte:	Adrenocortical tumors Armadillo Domain Proteins - genetics ARMC5 Cushing syndrome Cushing Syndrome - diagnosis Cushing Syndrome - genetics Cushing Syndrome - surgery GIPR Histone Demethylases - genetics Humans Hyperplasia KDM1A Life Sciences Phenotype Santé publique et épidémiologie
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