Targeted Next-Generation Sequencing in Diagnostic Approach to Monogenic Cholestatic Liver Disorders-Single-Center Experience

• Main Authors: Patryk Lipiński (Author), Elżbieta Ciara (Author), Dorota Jurkiewicz (Author), Agnieszka Pollak (Author), Maria Wypchło (Author), Rafał Płoski (Author), Joanna Cielecka-Kuszyk (Author), Piotr Socha (Author), Joanna Pawłowska (Author), Irena Jankowska (Author)
• Format: Book
• Published: Frontiers Media S.A., 2020-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: To evaluate the clinical utility of panel-based NGS in the diagnostic approach of monogenic cholestatic liver diseases.Study design: Patients with diagnosis of chronic cholestatic liver disease of an unknown etiology underwent NGS of targeted genes panel. Group 1 included five patients (p...