Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing

Summary The achievement of more accurate diagnosis would greatly benefit the management of patients with osteogenesis imperfecta (OI). In this study, we present the largest OI sample in China as screened by next generation sequencing. In particular, we successfully identified 81 variants, which incl...

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Veröffentlicht in:	Osteoporosis international 2017-10, Vol.28 (10), p.2985-2995
Hauptverfasser:	Liu, Y., Asan, Ma, D., Lv, F., Xu, X., Wang, J., Xia, W., Jiang, Y., Wang, O., Xing, X., Yu, W., Sun, J., Song, L., Zhu, Y., Yang, H., Li, M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Body Height - physiology Bone Density - physiology Bone mineral density Child Child, Preschool China Collagen Collagen (type I) Computational Biology - methods Endocrinology Exons Female Femur Femur Neck - physiopathology Genes Genetic Association Studies - methods Genetic Predisposition to Disease Genotype Genotypes High-Throughput Nucleotide Sequencing Humans Infant Infant, Newborn Male Medicine Medicine & Public Health Mutation Original Article Orthopedics Osteogenesis Osteogenesis imperfecta Osteogenesis Imperfecta - genetics Osteogenesis Imperfecta - physiopathology Osteoporosis Phenotype Phenotypes Point mutation Rheumatology Spine Young Adult
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