2014 / ENGLISH
V. Laugel-Haushalter, M. Paschaki, P. Marangoni, C. Pilgram, A. Langer, T. Kuntz, J. Demassure, S. Morkmued, P. Choquet, A. Constantinesco, F. Bornert, M. Schmittbuhl, S. Pannetier, L. Viriot, A. Hanauer, P. Dollé, A. Bloch-Zupan. (2014).
PloS ONE 9(1):e84343. Doi:10.1371/journal.pone.0084343
« The RSK2 gene is responsible for Coffin-Lowry syndrome, an X-linked dominant genetic disorder causing mental retardation, skeletal growth delays, with craniofacial and digital abnormalities typically associated with this syndrome. Craniofacial and dental anomalies encountered in this rare disease have been poorly characterized. (…) »