In addition, both loss-of-function mutations of ring finger protein 135 (RNF135) and microdeletion of NF1-REPa to REPb including RNF135 contribute to an overgrowth syndrome including tall stature, macrocephaly, dysmorphic features, and variable additional features in NF1 patients (38). The gene discussed is NF1; the disease is overgrowth syndrome.