Clinical genetics of spondylocostal dysostosis: A mini review
Spondylocostal dysostosis is a genetic defect associated with severe rib and vertebrae malformations. In recent years, extensive clinical and molecular diagnosis advancements enabled us to identify disease-causing variants in different genes for such severe conditions. The identification of novel ca...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2022-11-01
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Series: | Frontiers in Genetics |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.996364/full |