Composition and dosage of a multipartite enhancer cluster control developmental expression of Indian hedgehog

Copy number variations (CNVs) often include non-coding sequence and putative enhancers but how these rearrangements induce disease is poorly understood. Here we investigate CNVs involving the regulatory landscape of Indian hedgehog (IHH), causing multiple, highly localised phenotypes including crani...

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Detalhes bibliográficos
Publicado no:Nat Genet
Main Authors: Will, Anja J., Cova, Giulia, Osterwalder, Marco, Chan, Wing-Lee, Wittler, Lars, Brieske, Norbert, Heinrich, Verena, de Villartay, Jean-Pierre, Vingron, Martin, Klopocki, Eva, Visel, Axel, Lupiáñez, Darío G., Mundlos, Stefan
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5617800/
https://ncbi.nlm.nih.gov/pubmed/28846100
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3939
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