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Sotos Syndrome Is Associated with Deregulation of the MAPK/ERK-Signaling Pathway
Sotos syndrome (SoS) is characterized by tall stature, characteristic craniofacial features and mental retardation. It is caused by haploinsufficiency of the NSD1 gene. In this study, our objective was to identify downstream effectors of NSD1 and to map these effectors in signaling pathways associat...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2012
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3498325/ https://www.ncbi.nlm.nih.gov/pubmed/23155469 http://dx.doi.org/10.1371/journal.pone.0049229 |