Clinical features and genetic analysis of A20 haploinsufficiency
HA20 has strong clinical heterogeneity, and genetic testing is crucial for diagnosis and guiding treatment. Early diagnosis and individualized treatment can improve prognosis.
Authors
- Yaqiong Guo (ORCID: https://orcid.org/0000-0001-9958-1295)
- Yuesheng Wang (ORCID: https://orcid.org/0000-0001-7269-9015)
- J. Hou (ORCID: https://orcid.org/0000-0001-9159-8746)
- Chao An
- Jing Hua Yu (ORCID: https://orcid.org/0000-0001-5975-3494)
- Zhi Lei (ORCID: https://orcid.org/0000-0002-4224-7023)
- Fumin Xue (ORCID: https://orcid.org/0000-0002-6199-0592)
- Shijie Dong
Institutions
- Zhengzhou Children's Hospital (CN)
- Second Affiliated Hospital of Zhengzhou University (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-08-26
- DOI
- https://doi.org/10.1186/s13023-025-04004-8
- Citations
- 1
- Primary Topic
- NF-κB Signaling Pathways
- Type
- article
- Field-Weighted Citation Impact
- 0.94
Funders
- National Natural Science Foundation of China