Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene

MYO5B基因新突变引起的两例微绒毛包涵体病

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Abstract

Microvillous inclusion disease (MVID) typically appears with severe chronic diarrhea in the few days after birth and rapidly causes dehydration and metabolic acidosis. In this context, presenting two novel cases, we underline the crucial importance of mutation analysis for the diagnosis of this disease that may be easily misdiagnosed.

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