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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

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