Associated Papers
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
Phenotypic Spectrum of NFIA Haploinsufficiency: Two Additional Cases and Review of the Literature.
Bertini V et al.
Genes, 2022
A novel NFIA gene nonsense mutation in a Chinese patient with macrocephaly, corpus callosum hypoplasia, developmental delay, and dysmorphic features.
Zhang Y et al.
Molecular Genetics & Genomic Medicine, 2020
Truncating mutation in NFIA causes brain malformation and urinary tract defects.
Negishi Y et al.
Human Genome Variation, 2015
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