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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5617800/
https://www.ncbi.nlm.nih.gov/pubmed/28846100
http://dx.doi.org/10.1038/ng.3939

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