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Carney triad can be (rarely) associated with germline succinate dehydrogenase defects

Carney triad, the association of paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas, is a sporadic condition that is significantly more frequent in females; its genetic etiology remains unknown. Carney triad is distinct from the dyad of paragangliomas/pheochro...

詳細記述

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書誌詳細
出版年:Eur J Hum Genet
主要な著者: Boikos, Sosipatros A, Xekouki, Paraskevi, Fumagalli, Elena, Faucz, Fabio R, Raygada, Margarita, Szarek, Eva, Ball, Evan, Kim, Su Young, Miettinen, Markku, Helman, Lee J, Carney, J Aidan, Pacak, Karel, Stratakis, Constantine A
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group 2016
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4929866/
https://ncbi.nlm.nih.gov/pubmed/26173966
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.142
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