ARMC5 mutation in a Portuguese family with primary bilateral macronodular adrenal hyperplasia (PBMAH)

SUMMARY: PBMAH is a rare etiology of Cushing syndrome (CS). Familial clustering suggested a genetic cause that was recently confirmed, after identification of inactivating germline mutations in armadillo repeat-containing 5 (ARMC5) gene. A 70-year-old female patient was admitted due to left femoral...

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Detalles Bibliográficos
Autores principales: Rego, Teresa, Fonseca, Fernando, Espiard, Stéphanie, Perlemoine, Karine, Bertherat, Jérôme, Agapito, Ana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2017
Materias:
Insight into Disease Pathogenesis or Mechanism of Therapy
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5404469/
https://www.ncbi.nlm.nih.gov/pubmed/28458897
http://dx.doi.org/10.1530/EDM-16-0135

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5404469/
https://www.ncbi.nlm.nih.gov/pubmed/28458897
http://dx.doi.org/10.1530/EDM-16-0135

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