Article
Rare missense variants in FNDC1 are associated with severe adolescent idiopathic scoliosis.
Journal of medical genetics - 24 Jun 2025
Charng Wu-Lin, Haller Gabe, Whittle Julia, Nikolov Momchil, Avery Addison, Morcuende Jose, Giampietro Philip, Raggio Cathy, Miller Nancy, Justice Anne E, Strande Natasha T, Seeley Mark, Bodian Dale L, Wise Carol A, Sepich Diane S, Dobbs Matthew B, Gurnett Christina A
Abstract excerpt
BACKGROUND: Scoliosis is the most common paediatric spinal deformity. More than 80% of scoliosis is idiopathic and appears during the adolescent growth spurt. Spinal fusion surgery is often required for patients with progressive adolescent idiopathic scoliosis (AIS), and the genetic risk factors for severe disease (defined here as curve >35 degrees) are largely unknown. METHODS: To explore the role of rare...
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