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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Bibliografiske detaljer
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.
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2014
Fag:
Association Studies Articles
Online adgang: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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