Article
Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval.
Annals of human genetics - 1 Sept 2005
Venturin M, Bentivegna A, Moroni R, Larizza L, Riva P
Abstract excerpt
It was recently reported that congenital heart disease is significantly more frequent in patients with NF1 microdeletion syndrome than in those with classical NF1. The outcome of congenital heart disease in this subset of patients is likely caused by the haploinsufficiency of gene/s in the deleti...
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