Brain malformations with urinary tract defects

Definition:

Brain malformations with urinary tract defects (BRMUTD) is a novel human syndrome associated with 1p32-p31 deletion involving the NFIA gene. NFIA encodes a member of the NFI family of transcription factors.

References:

[1]. Jianling Ji, 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 May-Jun;57(6):267-8. [Content Brief]

[2]. Weining Lu, et al. NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS Genet. 2007 May 25;3(5):e80. [Content Brief]

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