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Papers of the Week
Mutations in Myosin 5B (MYO5B) in Children with Early Onset Cholestasis.
Authors
Abstract
Mutations in Myosin 5B (MYO5B) are known to be associated with microvillous inclusion disease (MVID) a genetic cause of neonatal intractable diarrhoea. More recently they have been reported in children with cholestasis but without typical gastrointestinal symptoms of MVID. We describe our series of children with cholestasis and mutations in MYO5B.