Distinct heterozygous TTC7A missense variants lead to different intestinal epithelial phenotypes in pediatric IBD
Zahra Shojaei Jeshvaghani, Polina Deenichina, Lauren V. Collen, Maaike Hillegonda de Vries, Jesse E. Brunsveld, Daniel Kotlarz, Sibylle Koletzko, Christoph Klein, Jeffrey Matthijn Beekman, Scott B. Snapper, Caroline A. Lindemans, Michal Mokrý, Carmen Argmann, Ewart Kuijk, Edward E. S. Nieuwenhuis
This study examines how different TTC7A missense mutations in pediatric IBD patients lead to distinct intestinal epithelial phenotypes.
bioRxiv · Jun 11, 2025 · PreprintGenetics