Article
Clinical exome sequencing for diagnosing severe cryptogenic liver disease in adults: A case series.
Liver international : official journal of the International Association for the Study of the Liver - 1 Apr 2022
Pelusi Serena, Ronzoni Luisa, Malvestiti Francesco, Bianco Cristiana, Marini Ilaria, D'Ambrosio Roberta, Giannotta Juri Alessandro, Soardo Giorgio, Maggioni Marco, Prati Daniele, Valenti Luca
Abstract excerpt
Liver diseases remain unexplained in up to 30% of adult patients; genetic analysis could help establish the correct diagnosis. In six adult patients with cryptogenic liver disease, we performed whole-exome sequencing (WES) and evaluated the individual predisposition to progressive fatty liver disease by polygenic risk scores (PRS). In one patient, WES was allowed to diagnose the Hermansky-Pudlak syndrome. In the...
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