| 1 | CFNS, DLL3, EFNB1, FOAR, FRNS, GPC3, LRP2, PAMD, SCDO1, SGBS, STRA6, UNK
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| Genetic aspects of human congenital diaphragmatic hernia.
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| Pober BR.
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| Clin Genet 74(1):1-15. Epub 2008 May 28. 2008
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| 2 | DLL3, SCDO1
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| Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations.
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| Whittock NV, Ellard S, Duncan J, de Die-Smulders CE, Vles JS, Turnpenny PD.
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| Clin Genet 66(1):67-72. 2004
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| 3 | CADASIL, DLL1, Dll3, DLL4, JAG1, JAG2, NOTCH1, NOTCH2, NOTCH3, NOTCH4 , RBPJ, SCDO1
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| Notch signaling and inherited disease syndromes.
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| Gridley T.
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| Hum Mol Genet 12 Spec No 1:R9-13. Review. 2003
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| 4 | DLL3, SCDO1
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| 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.
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| Turnpenny PD, Whittock N, Duncan J, Dunwoodie S, Kusumi K, Ellard S.
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| J Med Genet 40(5):333-9. 2003
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| 5 | DLL3, SCDO1
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| A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village.
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| Bonafe L, Giunta C, Gassner M, Steinmann B, Superti-Furga A.
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| Clin Genet 64(1):28-35. 2003
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| 6 | DLL3, SCDO1
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| Axial skeletal defects caused by mutation in the spondylocostal dysplasia/pudgy gene Dll3 are associated with disruption of the segmentation clock within the presomitic mesoderm.
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| Dunwoodie SL, Clements M, Sparrow DB, Sa X, Conlon RA, Beddington RS.
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| Development 129(7):1795-806. 2002
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| 7 | CMDR, SCDO1
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| Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia.
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| Iughetti P, Alonso LG, Wilcox W, Alonso N, Passos-Bueno MR.
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| Am J Med Genet 95(5):482-91. 2000
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| 8 | DLL3, SCDO1
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| Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.
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| Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD.
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| Nat Genet 24(4):438-41. 2000
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| 9 | DLL3, SCDO1
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| A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.
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| Turnpenny PD, Bulman MP, Frayling TM, Abu-Nasra TK, Garrett C, Hattersley AT, Ellard S.
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| Am J Hum Genet 65(1):175-82. 1999
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