Genomic analysis of lean individuals with NAFLD identifies monogenic disorders in a prospective cohort study
Zheng M, Huang D, Konkwo C, Agrawal S, Khera A, Loomba R, Vilarinho S, Ajmera V. Genomic analysis of lean individuals with NAFLD identifies monogenic disorders in a prospective cohort study. JHEP Reports 2023, 5: 100692. PMID: 36937991, PMCID: PMC10017416, DOI: 10.1016/j.jhepr.2023.100692.Peer-Reviewed Original ResearchNon-alcoholic fatty liver diseaseLean non-alcoholic fatty liver diseaseFatty liver diseaseBiopsy-proven non-alcoholic fatty liver diseaseLiver diseaseWhole-exome sequencingLean patientsVisceral adiposityPatient 2Liver fatLean individualsMonogenic disordersMagnetic Resonance Imaging AssessmentExome sequencingHigh liver fatProspective cohort studyCohort of patientsEvaluation of patientsHereditary fructose intoleranceHomozygous pathogenic mutationNAFLD subtypesUnique genetic mutationsCohort studyLiver biopsyRare heterozygous mutations
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