Exome sequencing analysis identifies frequent oligogenic involvement and FLNB variants in adolescent idiopathic scoliosis

BACKGROUND: Adolescent idiopathic scoliosis (AIS) is a genetically heterogeneous disease characterised by three-dimensional deformity of the spine in the absence of a congenital spinal anomaly or neurological musculoskeletal disorder. The clinical variability and incomplete penetrance of some genes...

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Dades bibliogràfiques
Publicat a:J Med Genet
Autors principals: Jiang, Heng, Liang, Shulun, He, Kai, Hu, Jinghua, Xu, Enjie, Lin, Tao, Meng, Yichen, Zhao, Jianquan, Ma, Jun, Gao, Rui, Wang, Ce, Yang, Fu, Zhou, Xuhui
Format: Artigo
Idioma:Inglês
Publicat: BMJ Publishing Group 2020
Matèries:
Complex Traits
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7279190/
https://ncbi.nlm.nih.gov/pubmed/32381728
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2019-106411
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