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
Defective somitogenesis and abnormal vertebral segmentation in man.
Turnpenny PD
Advances in Experimental Medicine and Biology, 2008
DLL3 as a candidate gene for vertebral malformations.
Giampietro PF et al.
American Journal of Medical Genetics. Part A, 2006
A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation.
Rueffert H et al.
American Journal of Medical Genetics. Part A, 2004
A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village.
Bonafé L et al.
Clinical Genetics, 2003
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.
Bulman MP et al.
Nature Genetics, 2000
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