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Article

TBX6 missense variants expand the mutational spectrum in a non‐Mendelian inheritance disease

31 Aug 2019

Abstract excerpt

Congenital scoliosis (CS) is a birth defect with variable clinical and anatomical manifestations due to spinal malformation. The genetic etiology underlying about 10% of CS cases in the Chinese population is compound inheritance by which the gene dosage is reduced below that of haploinsufficiency. In this genetic model, the trait manifests as a result of the combined effect of a rare variant and common pathogenic...

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PMID: 31471994
DOI: 10.1002/humu.23907

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