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Association of the M1V PRKAR1A Mutation with Primary Pigmented Nodular Adrenocortical Disease in Two Large Families

Background: Carney complex (CNC) is a familial multiple neoplasia syndrome frequently associated with primary pigmented nodular adrenocortical disease (PPNAD), a bilateral form of micronodular adrenal hyperplasia that leads to Cushing’s syndrome (CS). Germline PRKAR1A mutations cause CNC and only ra...

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主要な著者: Pereira, Alberto M., Hes, Frederik J., Horvath, Anelia, Woortman, Sanne, Greene, Elizabeth, Bimpaki, Eirini, Alatsatianos, Anton, Boikos, Sosipatros, Smit, Johannes W., Romijn, Johannes A., Nesterova, Maria, Stratakis, Constantine A.
フォーマット: Artigo
言語:Inglês
出版事項: The Endocrine Society 2010
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2805491/
https://ncbi.nlm.nih.gov/pubmed/19915019
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2009-0993
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