Associated Papers
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1
The genetics of monogenic intestinal epithelial disorders.
Babcock SJ et al.
Human Genetics, 2023
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
Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects.
Janecke AR et al.
Human Genetics, 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
32583448 (PubMed )
Supplement: HEP-72-1461-s001.pdf
Autozygome and high throughput confirmation of disease genes candidacy.
Maddirevula S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30237576 (PubMed )
Supplement: 41436_2018_138_MOESM2_ESM.xlsx › Table_1
Weibel-Palade Body Localized Syntaxin-3 Modulates Von Willebrand Factor Secretion From Endothelial Cells.
Schillemans M et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 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
Loss of syntaxin 3 causes variant microvillus inclusion disease.
Wiegerinck CL et al.
Gastroenterology, 2014
Microvillus Inclusion Disease Variant in an Infant with Intractable Diarrhea.
Alsaleem BMR et al.
Case Reports in Gastroenterology, 0
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