Article
Liver findings in patients with Carney complex, germline PRKAR1A pathogenic variants, and link to cardiac myxomas.
Endocrine-related cancer - 1 Jun 2020
Tirosh Amit, Hamimi Ahmed, Faucz Fabio, Aharon-Hananel Genya, Zavras Phaedon D, Bonella Belen, Auerbach Adi, Gillis David, Lyssikatos Charalampos, Belyavskaya Elena, Stratakis Constantine A, Gharib Ahmed M
Abstract excerpt
This study aimed to evaluate liver involvement in patients with Carney complex (CNC) based on a large cohort and to analyze any germline PRKAR1A genotype-phenotype association of liver disease. The study included 83 patients with CNC, followed between 1995 and 2018 at a tertiary research center. We reviewed liver images, recorded types and number of lesions and analyzed per genotype: all patients were sequenced...
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