Associated Papers
Prominent Follicular Keratosis in Multiple Intestinal Atresia with Combined Immune Deficiency Caused by a TTC7A Homozygous Mutation.
Diociaiuti A et al.
Genes, 2022
Ichthyosis as the dermatological phenotype associated with TTC7A mutations.
Leclerc-Mercier S et al.
The British Journal of Dermatology, 2016
TTC7A mutations disrupt intestinal epithelial apicobasal polarity.
Bigorgne AE et al.
The Journal of Clinical Investigation, 2014
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