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Article

A Functional Relationship Between UNC45A and MYO5B Connects Two Rare Diseases With Shared Enteropathy

1 Jan 2022

Abstract excerpt

BACKGROUND & AIMS: UNC45A is a myosin (co-)chaperone, and mutations in the UNC45A gene were recently identified in osteo-oto-hepato-enteric (O2HE) syndrome patients presenting with congenital diarrhea and intrahepatic cholestasis. Congenital diarrhea and intrahepatic cholestasis are also the prime symptoms in patients with microvillus inclusion disease (MVID) and mutations in MYO5B, encoding the recycling...

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Identifiers

PMID: 35421597
DOI: 10.1016/j.jcmgh.2022.04.006

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