Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Volume: 380, Issue: 9854, Pages: 1674 - 1682
Published: Nov 1, 2012
Abstract
The genetic cause of intellectual disability in most patients is unclear because of the absence of morphological clues, information about the position of such genes, and suitable screening methods. Our aim was to identify de-novo variants in individuals with sporadic non-syndromic intellectual disability.In this study, we enrolled children with intellectual disability and their parents from ten centres in Germany and Switzerland. We compared...
Paper Details
Title
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
Published Date
Nov 1, 2012
Journal
Volume
380
Issue
9854
Pages
1674 - 1682
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