Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I

The significant variability in the clinical manifestations of COL2A1-associated skeletal dysplasias makes it necessary to conduct a clinical and genetic analysis of individual nosological variants, which will contribute to improving our understanding of the pathogenetic mechanisms and prognosis. We...

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Detalles Bibliográficos
Autores principales: Markova, Tatyana, Kenis, Vladimir, Melchenko, Evgeniy, Osipova, Darya, Nagornova, Tatyana, Orlova, Anna, Zakharova, Ekaterina, Dadali, Elena, Kutsev, Sergey
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8775336/
https://www.ncbi.nlm.nih.gov/pubmed/35052477
http://dx.doi.org/10.3390/genes13010137

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8775336/
https://www.ncbi.nlm.nih.gov/pubmed/35052477
http://dx.doi.org/10.3390/genes13010137

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