Prominent Follicular Keratosis in Multiple Intestinal Atresia with Combined Immune Deficiency Caused by a TTC7A Homozygous Mutation

Prominent Follicular Keratosis in Multiple Intestinal Atresia with Combined Immune Deficiency Caused by a TTC7A Homozygous Mutation

Multiple intestinal atresia with combined immune deficiency (MIA-CID) is an autosomal recessive syndrome due to mutations in the TTC7A gene implicated in the polarization of intestinal and thymic epithelial cells. MIA-CID is lethal in the first year of life in the majority of patients. Dermatologica...

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Bibliographic Details
Main Authors: Andrea Diociaiuti, Roberta Caruso, Silvia Ricci, Rita De Vito, Luisa Strocchio, Daniele Castiglia, Giovanna Zambruno, May El Hachem
Format: Article
Language:English
Published: MDPI AG 2022-05-01
Series:Genes
Subjects:
dermoscopy
ichthyosis
keratinocyte apoptosis
TTC7A mutation
Online Access:https://www.mdpi.com/2073-4425/13/5/821

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