Coffin-Lowry syndrome

Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome
S Manouvrier-Hanu, J Amiel, S Jacquot, K Merienne, A Moerman, A Coëslier, F Labarriere, L Vallée, M F Croquette, A Hanauer

Journal of Medical Genetics Oct 1999, 36 (10) 775-778; DOI: 10.1136/jmg.36.10.775

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Coffin-Lowry syndrome