Novel APOB nonsense variant related to familial hypobetalipoproteinemia and hepatic steatosis: A case report and review

Pablo Rodríguez de Vera-Gómez,Pilar Del Pino-Bellido,Juan Jesús García-González, Flora Sánchez-Jiménez, Rosario Oliva-Rodríguez,Teresa Arrobas-Velilla,María Asunción Martínez-Brocca

Journal of Clinical Lipidology（2022）

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摘要

•Familial hypobetalipoproteinemia is caused by monoallelic variants in APOB.•Metabolic Associated Fatty Liver Disease is the main associated comorbidity.•We report a novel APOB nonsense variant and present a short review about this entity.•We propose a support algorithm for the clinical diagnosis of this syndrome.

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关键词

Familial hypobetalipoproteinemia,Hepatic steatosis,APOB nonsense variant,Hypocholesterolemia,Hypotriglyceridemia,Cardiovascular risk

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