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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...

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Detalles Bibliográficos
Autores principales: Visser, Remco, Landman, Ellie B. M., Goeman, Jelle, Wit, Jan M., Karperien, Marcel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
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