Spondylocostal dysostosis 1 – case report and literature review

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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Bibliographic Details
Main Authors: Elżbieta Drachal, Paweł Zapolnik, Łukasz Dembiński, Michał Zgurski, Antoni Pyrkosz
Format: Article
Language:English
Published: Termedia Publishing House 2023-03-01
Series:Pediatria Polska
Subjects:
short stature
jarcho‐levin syndrome (jls)
spondylocostal dysostosis (scd)
vertebral deformity.
Online Access:https://www.termedia.pl/Spondylocostal-dysostosis-1-case-report-and-literature-review,127,50420,1,1.html

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