Article
Prevalence of POC5 Coding Variants in French-Canadian and British AIS Cohort.
Genes - 1 Jul 2021
Mathieu Hélène, Spataru Aurélia, Aragon-Martin José Antonio, Child Anne, Barchi Soraya, Fortin Carole, Parent Stefan, Moldovan Florina
Abstract excerpt
Adolescent idiopathic scoliosis (AIS) is a complex common disorder of multifactorial etiology defined by a deviation of the spine in three dimensions that affects approximately 2% to 4% of adolescents. Risk factors include other affected family members, suggesting a genetic component to the disease. The POC5 gene was identified as one of the first ciliary candidate genes for AIS, as three variants were identified...
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