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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...
Gorde:
| Argitaratua izan da: | J Med Genet |
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| Egile Nagusiak: | , , , , , , , , , , , , , , , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
2019
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| Gaiak: | |
| Sarrera elektronikoa: | 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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