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Project: Identification of causal mutations in patients with unexplained mental retardation and congenital abnormalities by high throughput sequencing of selected candidate genes

project duration
01-OCT-08 – 30-SEP-12
abstract
Chromosomal aberrations as well as pointmutations are an important cause of mental retardation and multipele congenital abnormalities (MR/MCA). In this project, the newest technologies in human genetics (selective resequencing) will be used to resequence 3000 candidate genes for MR/MCA in order to understand the underlying cause of MR/MCA and to gain insights in normal human embryogenesis.