Article
Mutations in KIF7 implicated in idiopathic scoliosis in humans and axial curvatures in zebrafish.
Human mutation - 1 Apr 2021
Terhune Elizabeth A, Cuevas Melissa T, Monley Anna M, Wethey Cambria I, Chen Xiaomi, Cattell Maria V, Bayrak Melisa N, Bland Morgan R, Sutphin Brittan, Trahan George Devon, Taylor Matthew R G, Niswander Lee A, Jones Kenneth L, Baschal Erin E, Antunes Lilian, Dobbs Matthew, Gurnett Christina, Appel Bruce, Gray Ryan, Hadley Miller Nancy
Abstract excerpt
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...
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