European Journal of Human Genetics (2013) 21, 480–486
Developed by a consensus process using the 1998 CMGS guidelines as a starting point. We acknowledge the contribution of Dr David Rubinsztein to the 1998 CMGS guidelines. This work was partially supported by the EMQN and by EuroGentest (EuroGentest2 Coordination Action 2011 – EU Contract no.: FP7 – HEALTH-F4-2010-261469).
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