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References from Clinical Spectrum, Genetic Profile, and Genotype–Phenotype Correlations in Microvillus Inclusion Disease: A Systematic Review. Local targets link to admitted publications; unresolved targets remain external evidence.
Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated With MYO5B Mutations
10.3390/jcm10030481 · 2021 · External reference
Microvillus Inclusion Disease Caused by MYO5B: Different Presentation and Phenotypes Despite Same Mutation
10.1097/pg9.0000000000000309 · 2023 · External reference
Munc18‐2 Deficiency Causes Familial Hemophagocytic Lymphohistiocytosis Type 5 and Impairs Cytotoxic Granule Exocytosis in Patient NK Cells
10.1172/jci40732 · 2009 · External reference
Familial Enteropathy: A Syndrome of Protracted Diarrhea From Birth, Failure to Thrive, and Hypoplastic Villus Atrophy
10.1016/0016-5085(78)90458-4 · 1978 · External reference
UNC45A Deficiency Causes Microvillus Inclusion Disease‐Like Phenotype by Impairing Myosin VB‐Dependent Apical Trafficking
10.1172/jci154997 · 2022 · External reference
Loss of MYO5B Leads to Reductions in Na+ Absorption With Maintenance of CFTR‐Dependent cl‐ Secretion in Enterocytes
10.1053/j.gastro.2018.08.025 · 2018 · External reference
Navajo Microvillous Inclusion Disease Is due to a Mutation in MYO5B
10.1002/ajmg.a.32605 · 2008 · External reference
Loss‐Of‐Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility
10.1016/j.ajhg.2018.01.009 · 2018 · External reference
MYO5B and Bile Salt Export Pump Contribute to Cholestatic Liver Disorder in Microvillous Inclusion Disease
10.1002/hep.26974 · 2014 · External reference
Pathogenic STX3 Variants Affecting the Retinal and Intestinal Transcripts Cause an Early‐Onset Severe Retinal Dystrophy in Microvillus Inclusion Disease Subjects
10.1007/s00439-021-02284-1 · 2021 · External reference
Patient‐Derived Enteroids Provide a Platform for the Development of Therapeutic Approaches in Microvillus Inclusion Disease
10.1172/jci169234 · 2023 · External reference
New Insights Into the Indications for Intestinal Transplantation: Consensus in the Year 2019
10.1097/tp.0000000000003065 · 2020 · External reference
Identification of Intestinal Ion Transport Defects in Microvillus Inclusion Disease
10.1152/ajpgi.00041.2016 · 2016 · External reference
Pharmacological and Parenteral Nutrition‐Based Interventions in Microvillus Inclusion Disease
10.3390/jcm10010022 · 2020 · External reference
Risk and Clinical Significance of Idiopathic Preterm Birth in Microvillus Inclusion Disease
10.3390/jcm10173935 · 2021 · External reference
MYO5B Mutations Cause Microvillus Inclusion Disease and Disrupt Epithelial Cell Polarity
10.1038/ng.225 · 2008 · External reference
A Molecular Mechanism Underlying Genotype‐Specific Intrahepatic Cholestasis Resulting From MYO5B Mutations
10.1002/hep.31002 · 2020 · External reference
Familial Microvillous Atrophy: A Clinicopathological Survey of 23 Cases
10.1002/j.1536-4801.1992.tb10569.x · 1992 · External reference
ESPEN Guideline on Chronic Intestinal Failure in Adults ‐ Update 2023
10.1016/j.clnu.2023.07.019 · 2023 · External reference
Defects in Myosin VB Are Associated With a Spectrum of Previously Undiagnosed Low γ‐Glutamyltransferase Cholestasis
10.1002/hep.29020 · 2017 · External reference
From Intestinal Failure to Transplantation: Review on the Current Need for Transplant Indications Under Multidisciplinary Transplant Programs Worldwide
10.1111/petr.14756 · 2024 · External reference
Loss‐Of‐Function of MYO5B Is the Main Cause of Microvillus Inclusion Disease: 15 Novel Mutations and a CaCo‐2 RNAi Cell Model
10.1002/humu.21224 · 2010 · External reference
A Liver‐Specific Mouse Model for MYO5B‐Associated Cholestasis Reveals a Toxic Gain‐Of‐Function as Underlying Disease Mechanism
10.1016/j.bbrc.2025.151669 · 2025 · External reference
Uncovering the Relationship Between Genes and Phenotypes Beyond the Gut in Microvillus Inclusion Disease
10.1016/j.jcmgh.2024.01.015 · 2024 · External reference
Fetal Bowel Abnormalities Suspected by Ultrasonography in Microvillus Inclusion Disease: Prevalence and Clinical Significance
10.3390/jcm11154331 · 2022 · External reference
Unequal Effects of Myosin 5B Mutations in Liver and Intestine Determine the Clinical Presentation of Low‐Gamma‐Glutamyltransferase Cholestasis
10.1002/hep.31430 · 2020 · External reference
Cargo‐Selective Apical Exocytosis in Epithelial Cells Is Conducted by Myo5B, Slp4a, Vamp7, and Syntaxin 3
10.1083/jcb.201506112 · 2015 · External reference
Disrupted Apical Exocytosis of Cargo Vesicles Causes Enteropathy in FHL5 Patients With Munc18‐2 Mutations
10.1172/jci.insight.94564 · 2017 · External reference
MYO5B‐Associated Diseases: Novel Liver‐Related Variants and Genotype‐Phenotype Correlation
10.1111/liv.15104 · 2022 · External reference
A Molecular Mechanism of Intrahepatic Cholestasis in Osteo‐Oto‐Hepato‐Enteric Syndrome
10.1016/j.jcmgh.2026.101805 · 2026 · External reference
