Associated Papers
Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations.
Aldrian D et al.
Journal of Clinical Medicine, 2021
Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene.
Comegna M et al.
Clinical Case Reports, 2018
MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update.
Dhekne HS et al.
Human Mutation, 2018
An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations.
van der Velde KJ et al.
Human Mutation, 2013
MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.
Müller T et al.
Nature Genetics, 2008
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