Spondylocostal dysostosis 1 - case report and literature review

• Hauptverfasser: Elżbieta Drachal (VerfasserIn), Paweł Zapolnik (VerfasserIn), Łukasz Dembiński (VerfasserIn), Michał Zgurski (VerfasserIn), Antoni Pyrkosz (VerfasserIn)
• Format: Buch
• Veröffentlicht: Termedia Publishing House, 2023-03-01T00:00:00Z.
• Schlagworte: article
• Online-Zugang: Connect to this object online.

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...