Associated Papers
Focal segmental glomerulosclerosis and proteinuria associated with Myo1E mutations: novel variants and histological phenotype analysis.
Krendel M et al.
Pediatric Nephrology (berlin, Germany), 2023
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
Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.
Ruemmele FM et al.
Human Mutation, 2010
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