Article
Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation.
The Journal of clinical endocrinology and metabolism - 1 Jun 2014
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
Abstract excerpt
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 clinical phenotype of patients with and without ARMC5 mutations was compared. METHODS: Blood DNA from 34 MAH patients...
Topics
Join the communities discussing this publication.