Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis (AIS) causes spinal deformity in 3% of children. Despite a strong genetic basis, few genes have been associated with AIS and the pathogenesis remains poorly understood. In a genome-wide rare variant burden analysis using exome sequence data, we identified fibrillin-1...

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Detalhes bibliográficos
Main Authors: Buchan, Jillian G., Alvarado, David M., Haller, Gabe E., Cruchaga, Carlos, Harms, Matthew B., Zhang, Tianxiao, Willing, Marcia C., Grange, Dorothy K., Braverman, Alan C., Miller, Nancy H., Morcuende, Jose A., Tang, Nelson Leung-Sang, Lam, Tsz-Ping, Ng, Bobby Kin-Wah, Cheng, Jack Chun-Yiu, Dobbs, Matthew B., Gurnett, Christina A.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2014
Assuntos:
Association Studies Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4159151/
https://ncbi.nlm.nih.gov/pubmed/24833718
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu224
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