Collagen transport and related pathways in Osteogenesis Imperfecta

Osteogenesis Imperfecta (OI) comprises a heterogeneous group of patients who share bone fragility and deformities as the main characteristics, albeit with different degrees of severity. Phenotypic variation also exists in other connective tissue aspects of the disease, complicating disease classific...

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Detalhes bibliográficos
Publicado no:Hum Genet
Main Authors: Claeys, Lauria, Storoni, Silvia, Eekhoff, Marelise, Elting, Mariet, Wisse, Lisanne, Pals, Gerard, Bravenboer, Nathalie, Maugeri, Alessandra, Micha, Dimitra
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2021
Assuntos:
Review
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8263409/
https://ncbi.nlm.nih.gov/pubmed/34169326
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-021-02302-2
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