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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Nat Genet
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2017
Pynciau:
Article
Mynediad Ar-lein: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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