Abstract
Background and Aim: Monogenic liver diseases represent a heterogeneous group of conditions, seen in nearly 50% of chronic liver diseases presenting in childhood. As there are limited published data from India, we have conceptualized this study on monogenic cholestatic chronic liver diseases (MCCLD) in children. We performed this analysis of prospectively collected data to study the clinical and genetic spectrum of MCCLD in children diagnosed using clinical exome studies (CES) and their short term outcome.
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