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]
Biomedical Dictionary
The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.
Molarity Calculator
Dilution Calculator
