Fig. 2: Images depicting the extracardiac features of select individuals with NOTCH1 variants.

A Cutaneous vascular malformation on the lower back of individual B-II:1. B Cutaneous vascular malformation on the forearm of individual C-I:2. C Toe brachydactyly and hypoplastic nails on individual H-III:1. D Cutis aplasia on the scalp of individual H-II:2. E Cutis aplasia on the scalp of individual H-III:3.