Macronodular Adrenal Hyperplasia due to Mutations in an Armadillo Repeat Containing 5 (ARMC5) Gene: A Clinical and Genetic Investigation

CONTEXT: Inactivating germline mutations of the probable tumor suppressor gene, armadillo repeat containing 5 (ARMC5), have recently been identified as a genetic cause of macronodular adrenal hyperplasia (MAH). OBJECTIVE: We searched for ARMC5 mutations in a large cohort of patients with MAH. The cl...

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Päätekijät: Faucz, Fabio R., Zilbermint, Mihail, Lodish, Maya B., Szarek, Eva, Trivellin, Giampaolo, Sinaii, Ninet, Berthon, Annabel, Libé, Rossella, Assié, Guillaume, Espiard, Stéphanie, Drougat, Ludivine, Ragazzon, Bruno, Bertherat, Jerome, Stratakis, Constantine A.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Endocrine Society 2014
Aiheet:
JCEM Online: Advances in Genetics
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4037724/
https://ncbi.nlm.nih.gov/pubmed/24601692
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2013-4280
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