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Mutation of the LUNATIC FRINGE Gene in Humans Causes Spondylocostal Dysostosis with a Severe Vertebral Phenotype

The spondylocostal dysostoses (SCDs) are a heterogeneous group of vertebral malsegmentation disorders that arise during embryonic development by a disruption of somitogenesis. Previously, we had identified two genes that cause a subset of autosomal recessive forms of this disease: DLL3 (SCD1) and ME...

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Main Authors: Sparrow, D. B., Chapman, G., Wouters, M. A., Whittock, N. V., Ellard, S., Fatkin, D., Turnpenny, P. D., Kusumi, K., Sillence, D., Dunwoodie, S. L.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2006
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1380221/
https://ncbi.nlm.nih.gov/pubmed/16385447
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