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De novo and inherited pathogenic variants in collagen‐related osteogenesis imperfecta

BACKGROUND: Osteogenesis imperfecta (OI) is a rare genetic bone fragility disorder. In the current study, differences between the genotypes and phenotypes of de novo and inherited collagen‐related OI were investigated. METHODS: A comparative analysis was performed of the genotypes and phenotypes of...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Zhytnik, Lidiia, Maasalu, Katre, Duy, Binh Ho, Pashenko, Andrey, Khmyzov, Sergey, Reimann, Ene, Prans, Ele, Kõks, Sulev, Märtson, Aare
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6418448/
https://ncbi.nlm.nih.gov/pubmed/30675999
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.559
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