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

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...

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Detalles Bibliográficos
Autores principales: Tan, Wei, Ji, Yuelun, Qian, Yuepeng, Lin, Yongchang, Ye, Ruolian, Wu, Weiping, Li, Yibin, Sun, Yongjian, Pan, Jianyin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9135566/
https://www.ncbi.nlm.nih.gov/pubmed/35647203
http://dx.doi.org/10.1155/2022/5068523

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9135566/
https://www.ncbi.nlm.nih.gov/pubmed/35647203
http://dx.doi.org/10.1155/2022/5068523

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