Ontology highlight
ABSTRACT:
SUBMITTER: Terhune EA
PROVIDER: S-EPMC8049985 | biostudies-literature | 2021 Apr
REPOSITORIES: biostudies-literature
Terhune Elizabeth A EA Cuevas Melissa T MT Monley Anna M AM Wethey Cambria I CI Chen Xiaomi X Cattell Maria V MV Bayrak Melisa N MN Bland Morgan R MR Sutphin Brittan B Trahan George Devon GD Taylor Matthew R G MRG Niswander Lee A LA Jones Kenneth L KL Baschal Erin E EE Antunes Lilian L Dobbs Matthew M Gurnett Christina C Appel Bruce B Gray Ryan R Hadley Miller Nancy N
Human mutation 20210207 4
Idiopathic scoliosis (IS) is a spinal disorder affecting up to 3% of otherwise healthy children. IS has a strong familial genetic component and is believed to be genetically complex due to significant variability in phenotype and heritability. Previous studies identified putative loci and variants possibly contributing to IS susceptibility, including within extracellular matrix, cilia, and actin networks, but the genetic architecture and underlying mechanisms remain unresolved. Here, we used who ...[more]