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Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition
Koolen-de Vries syndrome (KdVS) is a multi-system disorder characterized by intellectual disability, friendly behavior, and congenital malformations. The syndrome is caused either by microdeletions in the 17q21.31 chromosomal region or by variants in the KANSL1 gene. The reciprocal 17q21.31 microdup...
Autores principales: | Arbogast, Thomas, Iacono, Giovanni, Chevalier, Claire, Afinowi, Nurudeen O., Houbaert, Xander, van Eede, Matthijs C., Laliberte, Christine, Birling, Marie-Christine, Linda, Katrin, Meziane, Hamid, Selloum, Mohammed, Sorg, Tania, Nadif Kasri, Nael, Koolen, David A., Stunnenberg, Henk G., Henkelman, R. Mark, Kopanitsa, Maksym, Humeau, Yann, De Vries, Bert B. A., Herault, Yann |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5531616/ https://www.ncbi.nlm.nih.gov/pubmed/28704368 http://dx.doi.org/10.1371/journal.pgen.1006886 |
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