Clinical relevance of loss-of-function mutations of NEMO/IKBKG
Dysfunctional inhibitor of nuclear factor-κB (NF-κB) kinase regulatory subunit gamma (IKBKG) is known to trigger incontinentia pigmenti (IP), anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID), immunodeficiency (ID), and IKBKG deleted exon 5 autoinflammatory syndrome (NDAS). The correlat...
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| Main Authors: | Jin Wang, Kexin Shen, Hongxia Lou, Lina Zhou, Yunfei An, Xiaodong Zhao, Yuan Ding |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
KeAi Communications Co., Ltd.
2025-09-01
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| Series: | Genes and Diseases |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2352304225000200 |
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