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Article

Mutational Screening of Skeletal Genes in 14 Chinese Children with Osteogenesis Imperfecta Using Targeted Sequencing.

Journal of immunology research - 1 Jan 2022

Tan Wei, Ji Yuelun, Qian Yuepeng, Lin Yongchang, Ye Ruolian, Wu Weiping, Li Yibin, Sun Yongjian, Pan Jianyin

Abstract excerpt

Background: As a heterogeneous hereditary connective tissue disorder, osteogenesis imperfecta (OI) is clinically characterized by increased fracture susceptibility. Analysis of genetic pathogenic variants in patients with OI provides a basis for genetic counseling and prenatal diagnosis. Methods: In this study, 14 diagnosed OI patients from sporadic Chinese families were enrolled to be screened for potential...

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Identifiers

PMID: 35647203
DOI: 10.1155/2022/5068523
PMCID: PMC9135566

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