Associated Papers
Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study.
Berry JG et al.
Ebiomedicine, 2025
41202470 (PubMed )
Supplement: mmc2.xlsx › Table_S1
Phenotypic Spectrum of NFIA Haploinsufficiency: Two Additional Cases and Review of the Literature.
Bertini V et al.
Genes, 2022
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
Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.
Revah-Politi A et al.
American Journal of Medical Genetics. Part A, 2017
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