Mutations in KIF7 Implicated in Idiopathic Scoliosis in Humans and Axial Curvatures in Zebrafish

Idiopathic scoliosis (IS) is a spinal disorder affecting up to 3% of otherwise healthy children. IS has a strong familial genetic component and is believed to be genetically complex due to significant variability in phenotype and heritability. Previous studies identified putative loci and variants p...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Terhune, Elizabeth A., Cuevas, Melissa T., Monley, Anna M., Wethey, Cambria I., Chen, Xiaomi, Cattel, Maria V., Bayrak, Melisa N., Bland, Morgan R., Sutphin, Brittan, Trahan, G. Devon, Taylor, Matthew R.G., Niswander, Lee A., Jones, Kenneth L., Baschal, Erin E., Antunes, Lilian, Dobbs, Matthew, Gurnett, Christina, Appel, Bruce, Gray, Ryan, Miller, Nancy Hadley
Formato: Artigo
Idioma:Inglês
Publicado em: 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8049985/
https://ncbi.nlm.nih.gov/pubmed/33382518
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.24162
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