MODIFIER MUTATIONS SEEM TO VARY THE NOONAN SYNDROME PHENOTYPE

摘要

Co-occurring mutations or modifying loci in the RAS-MAPK pathway may contribute to clinical variability among Noonan syndrome (NS) patients, suggest Ekvall et al (p. 1217). They report on a young woman with co-occurring PTPN11 and SHOC2 mutations, symptoms typical of SHOC2-positive patients with NS, loose anagen hair (LAH), and several additional manifestations, some of which overlap with Costello syndrome.