Immune Deficiency-Related Enteropathy-Lymphocytopenia-Alopecia Syndrome Results from Tetratricopeptide Repeat Domain 7A Deficiency

    Robert Lemoine, Jana Pachlopnik Schmid, Henner F. Farin … Geneviève de Saint Basile
    Studysummary This study found that biallelic mutations in the TTC7A gene affect lymphocyte and gut epithelial cell function, thereby contributing to the development of inflammatory bowel disease in patients.
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