A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency

Rare autosomal-recessive variants in tetratricopeptide repeat domain 7A (TTC7A) gene have been shown to cause intestinal and immune disorders of variable severity. Missense mutations in TTC7A gene, usually retaining most of the functional motifs, is associated with relative milder clinical presentat...

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Detalles Bibliográficos
Autores principales: Mou, Wenjun, Yang, Shen, Guo, Ruolan, Fu, Libing, Zhang, Li, Guo, Weihong, Du, Jingbin, He, Jianxin, Ren, Qinghua, Hao, Chanjuan, Gui, Jingang, Huang, Jinshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8714664/
https://www.ncbi.nlm.nih.gov/pubmed/34975848
http://dx.doi.org/10.3389/fimmu.2021.759308

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