Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis

INTRODUCTION: Adolescent idiopathic scoliosis (AIS) is a common musculoskeletal disorder with strong evidence for a genetic contribution. Copy number variants (CNVs) play an important role in congenital scoliosis, but their role in idiopathic scoliosis has been largely unexplored. METHODS: Exome seq...

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Published in:J Med Genet
Main Authors: Sadler, Brooke, Haller, Gabe, Antunes, Lilian, Bledsoe, Xavier, Morcuende, Jose A., Giampietro, Philip, Raggio, Cathleen, Hadley-Miller, Nancy, Kidane, Yared, Wise, Carol A., Amarillo, Ina, Walton, Nephi, Seeley, Mark, Johnson, Darren, Jenkins, Conner, Jenkins, Troy, Oetjens, Matthew, Tong, R. Spencer, Druley, Todd E., Dobbs, Matthew B., Gurnett, Christina A.
Format: Artigo
Language:Inglês
Published: 2019
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6592771/
https://ncbi.nlm.nih.gov/pubmed/30803986
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2018-105877
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