Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report

Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report

Abstract Background The association between mutations in the TNFAIP3 gene and a new autoinflammatory disease (called A20 haploinsufficiency, HA20) has recently been recognized. Here, we describe four patients with HA20 from two unrelated Chinese families. Case presentation A total of four patients f...

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Bibliographic Details
Main Authors: Guo-min Li, Hai-mei Liu, Wan-zhen Guan, Hong Xu, Bing-bing Wu, Li Sun
Format: Article
Language:English
Published: BMC 2019-07-01
Series:BMC Medical Genetics
Subjects:
A20 haploinsufficiency
Hypothyroidism
Interstitial lung disease
Liver fibrosis
Macrophage activation syndrome
TNFAIP3 gene
Online Access:http://link.springer.com/article/10.1186/s12881-019-0856-1

Internet

http://link.springer.com/article/10.1186/s12881-019-0856-1

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