ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences

CONTEXT: Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause of primary adrenal Cushing's syndrome (CS). ARMC5 germline mutations have been identified recently in PBMAH. OBJECTIVE: To determine the prevalence of ARMC5 mutations and analyze genotype-phenotype correlation i...

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Udgivet i:J Clin Endocrinol Metab
Main Authors: Espiard, Stéphanie, Drougat, Ludivine, Libé, Rossella, Assié, Guillaume, Perlemoine, Karine, Guignat, Laurence, Barrande, Gaelle, Brucker-Davis, Françoise, Doullay, Françoise, Lopez, Stephanie, Sonnet, Emmanuel, Torremocha, Florence, Pinsard, Denis, Chabbert-Buffet, Nathalie, Raffin-Sanson, Marie-Laure, Groussin, Lionel, Borson-Chazot, Françoise, Coste, Joël, Bertagna, Xavier, Stratakis, Constantine A., Beuschlein, Felix, Ragazzon, Bruno, Bertherat, Jérôme
Format: Artigo
Sprog:Inglês
Udgivet: Endocrine Society 2015
Fag:
JCEM Online: Advances in Genetics
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5393514/
https://ncbi.nlm.nih.gov/pubmed/25853793
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2014-4204
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