Associated Papers
Performance comparison: exome sequencing as a single test replacing Sanger sequencing.
Fridman H et al.
Molecular Genetics and Genomics : Mgg, 2021
Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.
Cornier AS et al.
American Journal of Human Genetics, 2008
Molecular analysis of congenital scoliosis: a candidate gene approach.
Maisenbacher MK et al.
Human Genetics, 2005
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
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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