Associated Papers
Identification of a Novel Nonsense Variant in the DLL3 Gene Underlying Spondylocostal Dysostosis in a Consanguineous Pakistani Family.
Khan F et al.
Molecular Syndromology, 2023
Clinical genetics of spondylocostal dysostosis: A mini review.
Umair M et al.
Frontiers in Genetics, 2022
Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humans.
Giampietro PF et al.
Annals of the New York Academy of Sciences, 2009
Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis.
Turnpenny PD et al.
Journal of Medical Genetics, 2003
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