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7. MANAGEMENT OF ENDOCRINE DISEASE: Carney complex: clinical and genetic update 20 years after the identification of the CNC1 (PRKAR1A) gene. Bouys L, Bertherat J. Eur J Endocrinol; 2021 Mar; 184(3):R99-R109. PubMed ID: 33444222 [Abstract] [Full Text] [Related]
8. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit (PRKAR1A) in patients with the "complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas" (Carney complex). Stratakis CA. Ann N Y Acad Sci; 2002 Jun; 968():3-21. PubMed ID: 12119264 [Abstract] [Full Text] [Related]
9. Phenotypic Variability in a Family with Carney Complex Accompanied by a Novel Mutation Involving PRKAR1A. Kubo H, Tsurutani Y, Sugisawa C, Sunouchi T, Hirose R, Saito J. Tohoku J Exp Med; 2022 Jul 27; 257(4):337-345. PubMed ID: 35732416 [Abstract] [Full Text] [Related]
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17. A large family with Carney complex caused by the S147G PRKAR1A mutation shows a unique spectrum of disease including adrenocortical cancer. Anselmo J, Medeiros S, Carneiro V, Greene E, Levy I, Nesterova M, Lyssikatos C, Horvath A, Carney JA, Stratakis CA. J Clin Endocrinol Metab; 2012 Feb 10; 97(2):351-9. PubMed ID: 22112814 [Abstract] [Full Text] [Related]
18. Fibrolamellar carcinoma in the Carney complex: PRKAR1A loss instead of the classic DNAJB1-PRKACA fusion. Graham RP, Lackner C, Terracciano L, González-Cantú Y, Maleszewski JJ, Greipp PT, Simon SM, Torbenson MS. Hepatology; 2018 Oct 10; 68(4):1441-1447. PubMed ID: 29222914 [Abstract] [Full Text] [Related]