Hirnmalformation mit Urogenitaldefekten

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