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Familial Micronodular Adrenocortical Disease, Cushing Syndrome, and Mutations of the Gene Encoding Phosphodiesterase 11A4 (PDE11A)

We present the pathologic findings in the adrenal glands of 4 patients, aged 10 to 38 years, with Cushing syndrome and germline inactivating mutations of the gene PDE11A4 that encodes phosphodiesterase11A4. The gene is expressed in the adrenal cortex and catalyses the hydrolysis of cyclic adenosine...

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Библиографические подробности
Главные авторы: Carney, J. Aidan, Gaillard, Rolf C., Bertherat, Jérôme, Stratakis, Constantine A.
Формат: Artigo
Язык:Inglês
Опубликовано: 2010
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4042182/
https://ncbi.nlm.nih.gov/pubmed/20351491
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/PAS.0b013e3181d31f49
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