Mutational Screening of Skeletal Genes in 14 Chinese Children with Osteogenesis Imperfecta Using Targeted Sequencing
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DOI: 10.1155/2022/5068523
Abstract: 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… read more here.
Keywords: genes chinese; imperfecta; skeletal genes; screening skeletal ... See more keywords