Article
Exome sequencing identifies a rare HSPG2 variant associated with familial idiopathic scoliosis.
G3 (Bethesda, Md.) - 12 Dec 2014
Baschal Erin E, Wethey Cambria I, Swindle Kandice, Baschal Robin M, Gowan Katherine, Tang Nelson L S, Alvarado David M, Haller Gabe E, Dobbs Matthew B, Taylor Matthew R G, Gurnett Christina A, Jones Kenneth L, Miller Nancy H
Abstract excerpt
Idiopathic scoliosis occurs in 3% of individuals and has an unknown etiology. The objective of this study was to identify rare variants that contribute to the etiology of idiopathic scoliosis by using exome sequencing in a multigenerational family with idiopathic scoliosis. Exome sequencing was completed for three members of this multigenerational family with idiopathic scoliosis, resulting in the identification...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.