TBX6 null variants and a common hypomorphic allele in congenital scoliosis.

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This study found that children with a 16p11.2 proximal deletion affecting the TBX6 gene, when they also inherit a specific common genetic variant on their other chromosome, have a significantly increased risk of developing congenital scoliosis (abnormal spinal curvature present at birth), which may help families and doctors watch for and address spinal issues early.