Genetic variant of TTLL11 gene and subsequent ciliary defects are associated with idiopathic scoliosis in a 5-generation UK family

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-q3...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Mathieu, Hélène, Patten, Shunmoogum A., Aragon-Martin, Jose Antonio, Ocaka, Louise, Simpson, Michael, Child, Anne, Moldovan, Florina
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2021
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8155187/
https://ncbi.nlm.nih.gov/pubmed/34040021
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-021-90155-0
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