Exome Sequencing Identifies a Rare HSPG2 Variant Associated with Familial Idiopathic Scoliosis

Idiopathic scoliosis occurs in 3% of individuals and has an unknown etiology. The objective of this study was to identify rare variants that contribute to the etiology of idiopathic scoliosis by using exome sequencing in a multigenerational family with idiopathic scoliosis. Exome sequencing was comp...

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Dettagli Bibliografici
Pubblicato in:G3 (Bethesda)
Autori principali: Baschal, Erin E., Wethey, Cambria I., Swindle, Kandice, Baschal, Robin M., Gowan, Katherine, Tang, Nelson L.S., Alvarado, David M., Haller, Gabe E., Dobbs, Matthew B., Taylor, Matthew R.G., Gurnett, Christina A., Jones, Kenneth L., Miller, Nancy H.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Genetics Society of America 2014
Soggetti:
Investigations
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4321025/
https://ncbi.nlm.nih.gov/pubmed/25504735
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1534/g3.114.015669
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