Brain malformations with urinary tract defects

Campbell CG et al. (2002) Interstitial microdeletion of chromosome 1p in two siblings.

Shanske AL et al. (2004) Detection of an interstitial deletion of 2q21-22 by high resolution comparative genomic hybridization in a child with multiple congenital anomalies and an apparent balanced translocation.

Lu W et al. (2007) NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.

Rao A et al. (2014) An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.

Nyboe D et al. (2015) Familial craniosynostosis associated with a microdeletion involving the NFIA gene.

Negishi Y et al. (2015) Truncating mutation in NFIA causes brain malformation and urinary tract defects.

Zinner SH et al. (2003) Second reported patient with del(1)(p32.1p32.3) and similar clinical features suggesting a recognizable chromosomal syndrome.

Koehler U et al. (2010) A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum.

Labonne JD et al. (2016) Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability.

Bayat A et al. (2017) Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene.

OMIM.ORG article

Orphanet article