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Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities

Autosomal dominant mutations in the bHLH transcription factor TWIST1 are associated with limb and craniofacial defects in humans with Saethre-Chotzen syndrome (SCS). The molecular mechanism underlying these phenotypes is poorly understood. We show that the ectopic expression of the related bHLH fact...

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Detalhes bibliográficos
Main Authors: Firulli, Beth A., Krawchuk, Dayana, Centonze, Victoria E., Virshup, David M., Conway, Simon J., Cserjesi, Peter, Laufer, Ed, Firulli, Anthony B.
Formato: Artigo
Idioma:Inglês
Publicado em: 2005
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2568820/
https://ncbi.nlm.nih.gov/pubmed/15735646
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng1525
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