Associated Papers
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
Congenital intestinal atresias with multiple episodes of sepsis: A case report and review of literature.
Mandiá N et al.
Medicine, 2018
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
Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency.
Yang W et al.
Clinical Genetics, 2015
The complex surgical management of the first case of severe combined immunodeficiency and multiple intestinal atresias surviving after the fourth year of life.
Guanà R et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2014
Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.
Chen R et al.
The Journal of Allergy and Clinical Immunology, 2013
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