Molecular landscape of congenital vertebral malformations: recent discoveries and future directions.

ABSTRACT: Vertebral malformations (VMs) pose a significant global health problem, causing chronic pain and disability. Vertebral defects occur as isolated conditions or within the spectrum of various congenital disorders, such as Klippel-Feil syndrome, congenital scoliosis, spondylocostal dysostosis, sacral agenesis, and neural tube defects. Although both genetic abnormalities and environmental factors can contribute to abnormal vertebral development, our knowledge on molecular mechanisms of numerous VMs is still limited. Furthermore, there is a lack of resource that consolidates the current knowledge in this field. In this pioneering review, we provide a comprehensive analysis of the latest research on the molecular basis of VMs and the association of the VMs-related causative genes with bone devel

SUBMITTER: Szoszkiewicz A 

PROVIDER: S-EPMC10829358 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature