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

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....

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8391542/
https://www.ncbi.nlm.nih.gov/pubmed/34440387
http://dx.doi.org/10.3390/genes12081213