NFIA

Publications

Bayat A et al. Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene. Clin Dysmorphol. 2017;26:148–53. PMID: 28452798.

Chen CP et al. Chromosome 1p32-p31 deletion syndrome: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes and association with NFIA haploinsufficiency, ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia, and intrauterine growth restriction. Taiwan J Obstet Gynecol. 2011;50:345–52PMID: 22030051.

Ji J et al. Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects. Eur J Med Genet. 2014;57:267–8. PMID: 24657733.

Rao A et al. An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects. Eur J Med Genet. 2014;57:65–70. PMID: 24462883.

Lu W et al. NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS Genet. 2007;3:e80. PMID: 17530927.

Revah-Politi A et al. Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: a four patient series. Am J Med Genet A. 2017;173:3158–64. PMID: 28941020.