Article

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis

2024-01-26

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 fivefold 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 so...

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Literature Corpus work: 6a96d9da-c2e2-5bd4-9d16-2fbda9dfcdc5
DOI: 10.7554/elife.89762.4

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