Compound Heterozygous MYO5B Mutation, a Cause of Infantile Cholestasis: A Case Report.

Abstract excerpt

Infantile cholestasis is a common clinical problem in early infancy characterised by impairment in bile formation and/or flow. It requires prompt evaluation for underlying aetiology to initiate appropriate management. Although biliary atresia remains the most important aetiology, metabolic and monogenic disorders are increasingly identified with advances in diagnostic genetic testing. Progressive familial...

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