Associated Papers
Novel loss-of-function intronic mutation in ELF4 is associated with intestinal autoinflammation.
Tian C et al.
Mucosal Immunology, 2025
Novel pathogenic variant in the deficiency in ELF4, X-linked (DEX): case report and literature review.
Zhuo L et al.
Orphanet Journal of Rare Diseases, 2025
Two novel frameshift variations in the ELF4 gene expand the mutational spectrum of DEX: case report and literature review.
Sun M et al.
Translational Pediatrics, 2025
40800195 (PubMed )
Supplement: tp-14-07-1675-supplementary.pdf
"Deficiency in ELF4, X-Linked": a Monogenic Disease Entity Resembling Behçet's Syndrome and Inflammatory Bowel Disease.
Olyha SJ et al.
Journal of Clinical Immunology, 2024
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