Associated Papers
Biochemical and structural studies of NFIA and NFIC reveal a conserved mechanism for specific DNA recognition and provide insight into potential pathogenicity of disease-associated mutations.
Pan S et al.
Acta Biochimica Et Biophysica Sinica, 2025
Significant phenotypic variability in a multigenerational family with an NFIA missense mutation: Case series and review of the literature.
Paschell P et al.
Clinical Case Reports, 2024
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.
Tooze RS et al.
Genes, 2023
36980886 (PubMed )
Supplement: genes-14-00615-s001.zip › Supplementary_Information.pdf
Phenotypic Spectrum of NFIA Haploinsufficiency: Two Additional Cases and Review of the Literature.
Bertini V et al.
Genes, 2022
36553517 (PubMed )
Supplement: genes-13-02249-s001.zip › genes-1961624-supplementary.pdf
The p.Thr395Met missense variant of NFIA found in a patient with intellectual disability is a defective variant.
Ogura Y et al.
American Journal of Medical Genetics. Part A, 2022
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