OR04-3 Genetic Alterations of ARMC5 and KDM1A Are Associated With Different Expression Profiles of I...
OR04-3 Genetic Alterations of ARMC5 and KDM1A Are Associated With Different Expression Profiles of Illegitimate Receptors in Primary Bilateral Macronodular Adrenal Hyperplasia
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Author / Creator
Armignacco, Roberta , Assié, Guillaume , Barat, Maxime , Bertherat, Jérôme , Berthon, Annabel , Bonnet-Serrano, Fidéline , Cavalcante, Isadora P , Dousset, Bertrand , Giannone, Gaëtan , Groussin, Lionel , Guignat, Laurence , Jouinot, Anne , Libé, Rossella , North, Marie-Odile , Pasmant, Eric , Perlemoine, Karine , Ragazzon, Bruno , Ribes, Christopher , Sibony, Mathilde , Vaczlavik, Anna , Vaduva, Patricia , Violon, Florian and Bouys, Lucas
Publisher
US: Oxford University Press
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Language
English
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Publisher
US: Oxford University Press
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Contents
Abstract
Introduction
Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) is a heterogeneous disease characterized by bilateral adrenal macronodules responsible for adrenal Cushing. To date, two genetic causes of PBMAH are known: germline inactivating variants of the tumor suppressor genes ARMC5 identified in 2013 (Assié, N Eng J Med 2...
Alternative Titles
Full title
OR04-3 Genetic Alterations of ARMC5 and KDM1A Are Associated With Different Expression Profiles of Illegitimate Receptors in Primary Bilateral Macronodular Adrenal Hyperplasia
Authors, Artists and Contributors
Author / Creator
Assié, Guillaume
Barat, Maxime
Bertherat, Jérôme
Berthon, Annabel
Bonnet-Serrano, Fidéline
Cavalcante, Isadora P
Dousset, Bertrand
Giannone, Gaëtan
Groussin, Lionel
Guignat, Laurence
Jouinot, Anne
Libé, Rossella
North, Marie-Odile
Pasmant, Eric
Perlemoine, Karine
Ragazzon, Bruno
Ribes, Christopher
Sibony, Mathilde
Vaczlavik, Anna
Vaduva, Patricia
Violon, Florian
Bouys, Lucas
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9625601
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9625601
Other Identifiers
ISSN
2472-1972
E-ISSN
2472-1972
DOI
10.1210/jendso/bvac150.167