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Article

Identification of Copy Number Variants in a Southern Chinese Cohort of Patients with Congenital Scoliosis.

Genes - 5 Aug 2021

Lai Wenjing, Feng Xin, Yue Ming, Cheung Prudence W H, Choi Vanessa N T, Song You-Qiang, Luk Keith D K, Cheung Jason Pui Yin, Gao Bo

Abstract excerpt

Congenital scoliosis (CS) is a lateral curvature of the spine resulting from congenital vertebral malformations (CVMs) and affects 0.5-1/1000 live births. The copy number variant (CNV) at chromosome 16p11.2 has been implicated in CVMs and recent studies identified a compound heterozygosity of 16p11.2 microdeletion and TBX6 variant/haplotype causing CS in multiple cohorts, which explains about 5-10% of the...

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Identifiers

PMID: 34440387
DOI: 10.3390/genes12081213
PMCID: PMC8391542

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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