Associated Papers
A de novo Non-sense Nuclear Factor I B Mutation (p.Tyr290*) Is Responsible for Brain Malformation and Lung Lobulation Defects.
Huang H et al.
Frontiers in Pediatrics, 2022
Pathogenic nonsense variant in NFIB in another patient with dysmorphism, Autism Spectrum Disorder, agenesis of the corpus callosum, and intellectual disability.
Rao ACA et al.
European Journal of Medical Genetics, 2020
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
Schanze I et al.
American Journal of Human Genetics, 2018
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