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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Enregistré dans:
Détails bibliographiques
Auteurs principaux: 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
Langue:Inglês
Publié: Oxford University Press 2014
Sujets:
Association Studies Articles
Accès en ligne: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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