Associated Papers
Clinical and molecular characterization of chondrodysplasias in a cohort of Egyptian patients.
Refeat MM et al.
Scientific Reports, 2025
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Scocchia A et al.
Orphanet Journal of Rare Diseases, 2021
34627339 (PubMed )
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