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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Detalles Bibliográficos
Autores principales: Diociaiuti, Andrea, Caruso, Roberta, Ricci, Silvia, De Vito, Rita, Strocchio, Luisa, Castiglia, Daniele, Zambruno, Giovanna, El Hachem, May
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9141598/
https://www.ncbi.nlm.nih.gov/pubmed/35627206
http://dx.doi.org/10.3390/genes13050821

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