Associated Papers
Genotype-Phenotype Correlation in TTC7A -Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1.
Imhoff J et al.
American Journal of Medical Genetics. Part A, 2025
Phenotype and genotype in hereditary chronic intestinal pseudo-obstruction with small intestine involvement.
Chen Y et al.
Frontiers in Medicine, 2025
Actin dynamics regulation by TTC7A/PI4KIIIα limits DNA damage and cell death under confinement.
Gajardo T et al.
The Journal of Allergy and Clinical Immunology, 2023
Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency.
El-Daher MT et al.
Frontiers in Immunology, 2019
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