Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Experimental_by_OMIM
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
Abnormal vertebral segmentation and the notch signaling pathway in man.
Turnpenny PD et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2007
Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations.
Whittock NV et al.
Clinical Genetics, 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
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