Associated Papers
Expanding the Genetic and Clinical Spectrum of Hereditary Angioedema with Normal C1 Inhibitor: Novel Variants and Treatment Insights.
Gao H et al.
Journal of Clinical Immunology, 2025
Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis.
Li S et al.
Orphanet Journal of Rare Diseases, 2024
38956600 (PubMed )
Supplement: 13023_2024_3228_MOESM3_ESM.xlsx › dominant_inheritance
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