Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I
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DOI: 10.3390/genes13010137
Abstract: 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… read more here.
Keywords: associated skeletal; clinical genetic; genetic characteristics; skeletal dysplasias ... See more keywords