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...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Izdano u:Hum Genome Var
Glavni autori: Taniguchi, Kosuke, Inoue, Mikihiro, Arai, Katsuhiro, Uchida, Keiichi, Migita, Osuke, Akemoto, Yui, Hirayama, Junya, Takeuchi, Ichiro, Shimizu, Hirotaka, Hata, Kenichiro
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group UK 2021
Teme:
Data Report
Online pristup: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
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Similar Items