Next‐generation Sequencing Facilitates the Diagnosis in a Child With Twinkle Mutations Causing Cholestatic Liver Failure

Abstract excerpt

In many disorders, overlapping clinical phenotypes and locus heterogeneity can significantly hamper making a clinical or molecular diagnosis. In both acute and cholestatic liver failure, making such a diagnosis has significant potential to alter the direction of therapy. In several large series, the majority of children with acute liver failure have no identifiable cause. It is the hope that new technologies may...

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