NFIB

Publications

Barrus K et al. The expanding spectrum of NFIB-associated phenotypes in a diverse patient population-A report of two new patients. Am J Med Genet A. 2020;182(12):2959-2963. PMID: 32902921.

Marinella G et al. Further characterization of NFIB-associated phenotypes: Report of two new individuals. Am J Med Genet A. 2023;191(2):540-545. PMID: 36321570.

Rao ACA et al. Pathogenic nonsense variant in NFIB in another patient with dysmorphism, Autism Spectrum Disorder, agenesis of the corpus callosum, and intellectual disability. Eur J Med Genet. 2020;63(12):104092. PMID: 33130023.


Schanze I et al. NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. Am J Hum Genet. 2018;103(5):752-768. PMID: 30388402.