Spondylocostal dysostosis 1 – case report and literature review
Spondylocostal dysostosis (SCD) type 1 (also known as Jarcho-Levin syndrome) is a rare hereditary skeletal disorder. The mutation of the DLL3 gene leads to the Notch signalling pathway disorder, resulting in somitogenesis errors and numerous deformations within the spine and ribs. This article prese...
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| Hlavní autoři: | , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Termedia Publishing House
2023-03-01
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| Edice: | Pediatria Polska |
| Témata: | |
| On-line přístup: | https://www.termedia.pl/Spondylocostal-dysostosis-1-case-report-and-literature-review,127,50420,1,1.html |
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