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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書誌詳細
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: Oxford University Press 2014
主題:
Association Studies Articles
オンライン･アクセス: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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