Haploinsufficiency of Sox9 results in defective cartilage primordia and premature skeletal mineralization

In humans, SOX9 heterozygous mutations cause the severe skeletal dysmorphology syndrome campomelic dysplasia. Except for clinical descriptions, little is known about the pathogenesis of this disease. We have generated heterozygous Sox9 mutant mice that phenocopy most of the skeletal abnormalities of...

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Autores principales: Bi, Weimin, Huang, Wendong, Whitworth, Deanne J., Deng, Jian Min, Zhang, Zhaoping, Behringer, Richard R., de Crombrugghe, Benoit
Formato: Artigo
Lenguaje:Inglês
Publicado: The National Academy of Sciences 2001
Materias:
Biological Sciences
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC34415/
https://ncbi.nlm.nih.gov/pubmed/11371614
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.111092198
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