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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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2013
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