Case report: identification of novel variant in SLC26A2 gene and preimplantation genetic testing for monogenic disorders in preventing diastrophic dysplasia
Abstract Background Diastrophic dysplasia is a rare autosomal recessive disorder characterized by abnormalities in bone and cartilage development, caused by pathogenic variants in the SLC26A2 gene. Case presentation This article presents a clinical case of preimplantation genetic testing for monogen...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SpringerOpen
2025-02-01
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| Series: | Egyptian Journal of Medical Human Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s43042-025-00649-z |
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