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The complex of myxomas, spotty pigmentation, and endocrine overactivity
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Testicular ultrasound in Carney complex: report of three cases
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Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex
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Kirschner LS, Carney JA, Pack SD, Taymans SE, Giatzakis C, Cho YS, Cho-Chung YS, Stratakis CA. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet 2000;26:89-92.
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Mutations in the protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and Carney complex
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Casey M, Vaughan CJ, He J, Hatcher CJ, Winter JM, Weremowicz S, Montgomery K, Kucherlapati R, Morton CC, Basson CT. Mutations in the protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and Carney complex. J Clin Invest 2000;106:R31-38.
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Disruption of protein kinase a regulation causes immortalization and dysregulation of D-type cyclins
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Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphatedependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes
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Bertherat J, Horvath A, Groussin L, Grabar S, Boikos S, Cazabat L, Libe R, René-Corail F, Stergiopoulos S, Bourdeau I, Bei T, Clauser E, Calender A, Kirschner LS, Bertagna X, Carney JA, Stratakis CA. Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphatedependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes. J Clin Endocrinol Metab 2009;94:2085-2091.
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