[Spondylo-vertebral and spondylo-thoracic dysostosis. Clinical, radiological and genetic study, apropos of 7 observations]
about
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosisChromosome 18q22.2-->qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects
P2860
[Spondylo-vertebral and spondylo-thoracic dysostosis. Clinical, radiological and genetic study, apropos of 7 observations]
description
1978 nî lūn-bûn
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1978年の論文
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name
[Spondylo-vertebral and spondy ...... dy, apropos of 7 observations]
@en
[Spondylo-vertebral and spondy ...... dy, apropos of 7 observations]
@nl
type
label
[Spondylo-vertebral and spondy ...... dy, apropos of 7 observations]
@en
[Spondylo-vertebral and spondy ...... dy, apropos of 7 observations]
@nl
prefLabel
[Spondylo-vertebral and spondy ...... dy, apropos of 7 observations]
@en
[Spondylo-vertebral and spondy ...... dy, apropos of 7 observations]
@nl
P2093
P1433
P1476
[Spondylo-vertebral and spondy ...... dy, apropos of 7 observations]
@en
P2093
Bonaime JL
Joannard A
P304
P577
1978-03-01T00:00:00Z