Associated Papers
Fetal Bowel Abnormalities Suspected by Ultrasonography in Microvillus Inclusion Disease: Prevalence and Clinical Significance.
Sun Y et al.
Journal of Clinical Medicine, 2022
35893420 (PubMed )
Supplement: jcm-11-04331-s001.zip › jcm-1723661-supplementary.pdf
Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations.
Aldrian D et al.
Journal of Clinical Medicine, 2021
Unequal Effects of Myosin 5B Mutations in Liver and Intestine Determine the Clinical Presentation of Low-Gamma-Glutamyltransferase Cholestasis.
van IJzendoorn SCD et al.
Hepatology (baltimore, Md.), 2020
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
29266534 (PubMed )
Supplement: HUMU-39-333-s002.docx
Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis.
Qiu YL et al.
Hepatology (baltimore, Md.), 2017
Microvillous atrophy: atypical presentations.
Perry A et al.
Journal of Pediatric Gastroenterology and Nutrition, 2014
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