A20 haploinsufficiency in a neonate caused by a large deletion on chromosome 6q
Abstract 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 majority of disease-causing mutations in most cases of HA20 comprise single nu...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2024-01-01
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| Series: | Pediatric Rheumatology Online Journal |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12969-023-00947-z |