Macronodular Adrenal Hyperplasia due to Mutations in an Armadillo Repeat Containing 5 (ARMC5) Gene: A Clinical and Genetic Investigation
Author(s) -
Fábio R. Faucz,
Mihail Zilbermint,
Maya Lodish,
Eva Szarek,
Giampaolo Trivellin,
Ninet Sinaii,
Annabel Berthon,
Rossella Libé,
Guillaume Assié,
Stéphanie Espiard,
Ludivine Drougat,
Bruno Ragazzon,
Jérôme Bertherat,
Constantine A. Stratakis
Publication year - 2014
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2013-4280
Subject(s) - medicine , endocrinology , germline mutation , mutation , biology , gene , genetics
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).
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