Article
Genetic variant of TTLL11 gene and subsequent ciliary defects are associated with idiopathic scoliosis in a 5-generation UK family.
Scientific reports - 26 May 2021
Mathieu Hélène, Patten Shunmoogum A, Aragon-Martin Jose Antonio, Ocaka Louise, Simpson Michael, Child Anne, Moldovan Florina
Abstract excerpt
Idiopathic scoliosis (IS) is a complex 3D deformation of the spine with a strong genetic component, most commonly found in adolescent girls. Adolescent idiopathic scoliosis (AIS) affects around 3% of the general population. In a 5-generation UK family, linkage analysis identified the locus 9q31.2-q34.2 as a candidate region for AIS; however, the causative gene remained unidentified. Here, using exome sequencing...
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