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Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome
Mutations in CHD7 are the major cause of CHARGE syndrome, an autosomal dominant disorder with an estimated prevalence of 1/15,000. We have little understanding of the disruptions in the developmental programme that underpin brain defects associated with this syndrome. Using mouse models, we show tha...
Autores principales: | Yu, Tian, Meiners, Linda C, Danielsen, Katrin, Wong, Monica TY, Bowler, Timothy, Reinberg, Danny, Scambler, Peter J, van Ravenswaaij-Arts, Conny MA, Basson, M Albert |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
eLife Sciences Publications, Ltd
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3870572/ https://www.ncbi.nlm.nih.gov/pubmed/24368733 http://dx.doi.org/10.7554/eLife.01305 |
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