PRKACB and Carney complex.

@article{Forlino2014PRKACBAC,
  title={PRKACB and Carney complex.},
  author={A. Forlino and A. Vetro and L. Garavelli and R. Ciccone and E. London and C. Stratakis and O. Zuffardi},
  journal={The New England journal of medicine},
  year={2014},
  volume={370 11},
  pages={
          1065-7
        }
}
  • A. Forlino, A. Vetro, +4 authors O. Zuffardi
  • Published 2014
  • Medicine
  • The New England journal of medicine
    • The authors report that a gain of function in the catalytic subunit beta of the cyclic AMP–dependent protein kinase (protein kinase A), resulting from the presence of four copies of PRKACB (instead of the normal two), may lead to a Carney complex phenotype. 
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    References

    SHOWING 1-10 OF 10 REFERENCES
    Mutations of the gene encoding the protein kinase A type I-α regulatory subunit in patients with the Carney complex
    • 907
    Carney complex and other conditions associated with micronodular adrenal hyperplasias.
    • 57
    Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome.
    • 245
    • PDF
    Truncations of titin causing dilated cardiomyopathy.
    • 833
    • PDF
    Left-dominant arrhythmogenic cardiomyopathy in a large family: associated desmosomal or nondesmosomal genotype?
    • 31
    Next generation sequencing in clinical diagnostics
    • 26
    • PDF
    A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy
    • 131
    Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
    • 1,430
    • PDF
    ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
    • 1,845
    • PDF
    Leftdominant arrhythmogenic cardiomyopathy in a large family: associated desmosomal or nondesmosomal genotype? Heart Rhythm 2013;10:548-59
    • 2013