Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion

A20 haploinsufficiency (HA20), a disease caused by loss-of-function TNFAIP3 mutations, manifests various autoinflammatory and/or autoimmune symptoms. Some cases of HA20 were initially diagnosed as very early onset inflammatory bowel disease (VEO-IBD). We performed whole-exome sequencing (WES) for a...

詳細記述

保存先:
書誌詳細
出版年:Hum Genome Var
主要な著者: Taniguchi, Kosuke, Inoue, Mikihiro, Arai, Katsuhiro, Uchida, Keiichi, Migita, Osuke, Akemoto, Yui, Hirayama, Junya, Takeuchi, Ichiro, Shimizu, Hirotaka, Hata, Kenichiro
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group UK 2021
主題:
Data Report
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7809258/
https://ncbi.nlm.nih.gov/pubmed/33446651
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-020-00128-4
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