Associated Papers
TTC7A missense variants in intestinal disease can be classified by molecular and cellular phenotypes.
Shojaei Jeshvaghani Z et al.
Human Molecular Genetics, 2025
TTC7A Variants Results in Gastrointestinal Defects and Immunodeficiency Syndrome: Case Series and Literature Review.
Huang Z et al.
Clinical Reviews in Allergy & Immunology, 2025
TTC7A: Steward of Intestinal Health.
Jardine S et al.
Cellular and Molecular Gastroenterology and Hepatology, 2019
Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy.
Lawless D et al.
Journal of Clinical Immunology, 2017
Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.
Avitzur Y et al.
Gastroenterology, 2014
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