A20 haploinsufficiency in a neonate caused by a large deletion on chromosome 6q

Haploinsufficiency of A20 (HA20) is a rare monogenic disease caused by heterozygous loss-of-function mutations in the tumor necrosis factor alpha-induced protein 3 (TNFAIP3) gene located on chromosome 6q23.3. The...
Source: Pediatric Rheumatology - Category: Rheumatology Authors: Tags: Review Source Type: research