Mutated MESP2 Causes Spondylocostal Dysostosis in Humans

Spondylocostal dysostosis (SCD) is a term given to a heterogeneous group of disorders characterized by abnormal vertebral segmentation (AVS). We have previously identified mutations in the Delta-like 3 (DLL3) gene as a major cause of autosomal recessive spondylocostal dysostosis. DLL3 encodes a liga...

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Autores principales: Whittock, Neil V., Sparrow, Duncan B., Wouters, Merridee A., Sillence, David, Ellard, Sian, Dunwoodie, Sally L., Turnpenny, Peter D.
Formato: Artigo
Lenguaje:Inglês
Publicado: The American Society of Human Genetics 2004
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1182088/
https://ncbi.nlm.nih.gov/pubmed/15122512
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