Clinical and molecular characterization of chondrodysplasias in a cohort of Egyptian patients
Abstract Skeletal dysplasias (SDs) are a broad and heterogeneous group of genetic disorders primarily affecting bone and collagen development. Diastrophic dysplasia (DTD) is a rare autosomal recessive chondrodysplasia caused by biallelic variants in the SLC26A2 gene. The current study aims to assess...
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| Hoofdauteurs: | , , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
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Nature Portfolio
2025-10-01
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| Reeks: | Scientific Reports |
| Onderwerpen: | |
| Online toegang: | https://doi.org/10.1038/s41598-025-22794-6 |
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