The Use of Next-Generation Sequencing for Research and Diagnostics for Intellectual Disability.

Abstract excerpt

Genetic or genomic mutation is a major cause of intellectual disability (ID). However, despite the generally anticipated strong genotype/phenotype correlation for ID, there are huge obstacles to gene identification, except perhaps where very distinct syndromic features are observed, because of the high degree of genetic heterogeneity and wide variability of phenotype for different mutations or even with the same...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genetic Heterogeneity
• Share to High-Throughput Nucleotide Sequencing