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...
Na minha lista:
| Principais autores: | , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Termedia Publishing House
2023-03-01
|
| Colecção: | Pediatria Polska |
| Assuntos: | |
| Acesso em linha: | https://www.termedia.pl/Spondylocostal-dysostosis-1-case-report-and-literature-review,127,50420,1,1.html |
| Tags: |
Sem tags, seja o primeiro a adicionar uma tag!
|