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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Detalles Bibliográficos
Autores principales: Zhytnik, Lidiia, Maasalu, Katre, Duy, Binh Ho, Pashenko, Andrey, Khmyzov, Sergey, Reimann, Ene, Prans, Ele, Kõks, Sulev, Märtson, Aare
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418448/
https://www.ncbi.nlm.nih.gov/pubmed/30675999
http://dx.doi.org/10.1002/mgg3.559

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418448/
https://www.ncbi.nlm.nih.gov/pubmed/30675999
http://dx.doi.org/10.1002/mgg3.559

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