Article
Association of Carney Complex with an Intronic Splice Site Mutation in the PRKAR1A Gene.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme - 1 Jun 2016
Guo H, Xiong H, Li Z, Xu J, Zhang H, Chen X, Hu S
Abstract excerpt
This study was aimed to investigate the clinical features and mutations in the PRKAR1A gene of a multigenerational kindred including 17 individuals at risk for Carney complex. Eight patients were diagnosed with Carney complex among the 17 individuals (47.1%). Among the 8 affected patients, 4 had cardiac myxomas, 8 had skin pigmentation, and 3 had diabetes. Genomic DNA sequencing in 14 surviving patients showed 6...
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