Cargando…
Genotype–Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease
Osteogenesis imperfecta (OI), mainly caused by structural abnormalities of type I collagen, is a hereditary rare disease characterized by increased bone fragility and reduced bone mass. Clinical manifestations of OI mostly include multiple repeated bone fractures, thin skin, blue sclera, hearing los...
Autores principales: | Shi, Jingru, Ren, Meng, Jia, Jinmeng, Tang, Muxue, Guo, Yongli, Ni, Xin, Shi, Tieliu |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6803541/ https://www.ncbi.nlm.nih.gov/pubmed/31680973 http://dx.doi.org/10.3389/fphar.2019.01200 |
Ejemplares similares
-
Corrigendum: Genotype–Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease
por: Shi, Jingru, et al.
Publicado: (2020) -
Genotype-phenotype correlations of Berardinelli-Seip congenital lipodystrophy and novel candidate genes prediction
por: Ren, Meng, et al.
Publicado: (2020) -
Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria
por: Fu, Yibao, et al.
Publicado: (2019) -
Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta
por: Lin, Hsiang-Yu, et al.
Publicado: (2015) -
Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta
por: Ben Amor, I. Mouna, et al.
Publicado: (2011)