Noonan syndrome
Of 19 subjects with a RAF1 mutation in two hotspots, 18 (or 95%) showed hypertrophic cardiomyopathy (HCM), compared with the 18% prevalence of HCM among individuals with Noonan syndrome in general.
Of 19 subjects with a <span class="gene" id="17603483-5-22-26">RAF1</span> mutation in two hotspots, 18 (or 95%) showed hypertrophic cardiomyopathy (HCM), compared with the 18% prevalence of HCM among individuals with <span class="disease" id="17603483-5-170-185">Noonan syndrome</span> in general.