Article

Association of genetic variation in <i>COL11A1</i> with adolescent idiopathic scoliosis

2023-05-27

Abstract excerpt

Adolescent idiopathic scoliosis (AIS) is a common and progressive spinal deformity in children that exhibits striking sexual dimorphism, with girls at more than five-fold greater risk of severe disease compared to boys. Despite its medical impact, the molecular mechanisms that drive AIS are largely unknown. We previously defined a female-specific AIS genetic risk locus in an enhancer near the PAX1 gene. Here we s...

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Literature Corpus work: ed9ab72e-542c-5fb2-b4bb-83ff07ef96a5
DOI: 10.1101/2023.05.26.542293

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