Deletions of the PRKAR1A Locus at 17q24.2-q24.3 in Carney Complex: Genotype-Phenotype Correlations and Implications for Genetic Testing

BACKGROUND: Carney complex (CNC) is a multiple neoplasia syndrome caused by PRKAR1A-inactivating mutations. One-third of the patients, however, have no detectable PRKAR1A coding sequence defects. Small deletions of the gene were previously reported in few patients, but large deletions of the chromos...

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主要な著者: Salpea, Paraskevi, Horvath, Anelia, London, Edra, Faucz, Fabio R., Vetro, Annalisa, Levy, Isaac, Gourgari, Evgenia, Dauber, Andrew, Holm, Ingrid A., Morrison, Patrick J., Keil, Margaret F., Lyssikatos, Charalampos, Smith, Eric D., Sanidad, Marc A., Kelly, JoAnn C., Dai, Zunyan, Mowrey, Philip, Forlino, Antonella, Zuffardi, Orsetta, Stratakis, Constantine A.
フォーマット: Artigo
言語:Inglês
出版事項: Endocrine Society 2014
主題:
JCEM Online: Advances in Genetics
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3879675/
https://ncbi.nlm.nih.gov/pubmed/24170103
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2013-3159
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