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Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis.

Distal Duplication,

All,

This study found that children and teens with a distal 16p11.2 duplication that includes the SH2B1 gene have a much higher chance of developing scoliosis, so families and care teams can use this information to prioritize early and regular spine screening to catch and treat curvature sooner, when outcomes are best.

Genetics, Phenotype, Skeletal,