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

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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Bibliographic Details
Main Authors: Tatyana Markova, Vladimir Kenis, Evgeniy Melchenko, Darya Osipova, Tatyana Nagornova, Anna Orlova, Ekaterina Zakharova, Elena Dadali, Sergey Kutsev
Format: Article
Language:English
Published: MDPI AG 2022-01-01
Series:Genes
Subjects:
collagenopathy type II
<i>COL2A1</i> gene
exome sequencing
novel variants
skeletal dysplasia
Online Access:https://www.mdpi.com/2073-4425/13/1/137

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https://www.mdpi.com/2073-4425/13/1/137

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