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Article

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

Journal of medical genetics - 1 Jun 2020

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

Abstract excerpt

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 linked with AIS indicate that this disease constitutes an oligogenic trait. OBJECTIVE: We aimed to explore the...

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Identifiers

PMID: 32381728
DOI: 10.1136/jmedgenet-2019-106411
PMCID: PMC7279190

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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