Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome.

Autor: Manouvrier-Hanu, S., Amiel, J., Jacquot, S., Merienne, K., Moerman, A., Coëslier, A., Labarriere, F., Vallée, L., Croquette, M. F., Hanauer, A.
Zdroj: Journal of Medical Genetics; Oct1999, p775-778, 4p, 2 Diagrams
Databáze: Complementary Index