The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update
The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update
About this item
Full title
Author / Creator
COMETE and ENSAT Networks , for the COMETE and ENSAT Networks , 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 and Bertherat, Jérôme
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
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More information
Scope and Contents
Contents
Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) is a rare cause of Cushing's syndrome due to bilateral adrenocortical macronodules. Germline inactivating variants of the tumor suppressor gene ARMC5 are responsible for 20-25% of apparently sporadic PBMAH cases and 80% of familial presentations. ARMC5 screening is now routinely performed f...
Alternative Titles
Full title
The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update
Authors, Artists and Contributors
Author / Creator
for the COMETE and ENSAT Networks
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_326ecc2072314c7e8d6b408921244d14
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_326ecc2072314c7e8d6b408921244d14
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-025-03554-1
