Inter‐ and Intrafamilial Phenotypic Variability in Individuals with Collagen‐Related Osteogenesis Imperfecta

Osteogenesis imperfecta (OI) is a rare genetic disorder also known as a “brittle bone disease.” Around 90% of patients with OI harbor loss‐of‐function or dominant negative pathogenic variants in the COL1A1 and COL1A2 genes, which code for collagen type I α1 and α2 chains. Collagen‐related forms of t...

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Detalles Bibliográficos
Autores principales: Zhytnik, Lidiia, Maasalu, Katre, Reimand, Tiia, Duy, Binh Ho, Kõks, Sulev, Märtson, Aare
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7485955/
https://www.ncbi.nlm.nih.gov/pubmed/32166892
http://dx.doi.org/10.1111/cts.12783

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7485955/
https://www.ncbi.nlm.nih.gov/pubmed/32166892
http://dx.doi.org/10.1111/cts.12783

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