Associated Papers
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
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
29266534 (PubMed )
Supplement: HUMU-39-333-s002.docx
Loss of syntaxin 3 causes variant microvillus inclusion disease.
Wiegerinck CL et al.
Gastroenterology, 2014
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