Article
Are copy number variants associated with adolescent idiopathic scoliosis?
Clinical orthopaedics and related research - 1 Oct 2014
Buchan Jillian G, Alvarado David M, Haller Gabe, Aferol Hyuliya, Miller Nancy H, Dobbs Matthew B, Gurnett Christina A
Abstract excerpt
BACKGROUND: Adolescent idiopathic scoliosis (AIS) is a complex genetic disorder that causes spinal deformity in approximately 3% of the population. Candidate gene, linkage, and genome-wide association studies have sought to identify genetic variation that predisposes individuals to AIS, but the genetic basis remains unclear. Copy number variants are associated with several isolated skeletal phenotypes, but their...
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