Wenjun Mou Shen Yang Ruolan Guo Libing Fu Li Zhang Weihong Guo Jingbin Du Jianxin He Qinghua Ren Chanjuan Hao Jingang Gui Jinshi Huang
10.3389/fimmu.2021.759308
Front Immunol
2021 Dec 15;12:759308.
combined immunodeficiency multiple intestinal atresia neonatal sepsis prohibited lymphocyte development tetratricopeptide repeat domain 7a
CC BY
https://pubmed.ncbi.nlm.nih.gov/34975848/
Intestinal Atresia / genetics Mutation, Missense / genetics Proteins / genetics Severe Combined Immunodeficiency / genetics
Intestinal Atresia / genetics Mutation, Missense / genetics Proteins / genetics Severe Combined Immunodeficiency / genetics Case Reports Research Support, Non-U.S. Gov't Child Humans Intestinal Atresia / immunology Male Mutation, Missense / immunology Proteins / immunology Severe Combined Immunodeficiency / immunology Proteins TTC7A protein, human Intestinal Atresia, Multiple
PMC8714664
34975848
A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency
2021