Fig. 1From: Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese childrenFacial features and limb anomalies of all the patients: a Facial features and hand defects of patient 1. b Craniofacial anomalies of patient 2. c Facial malformation, profile, fingertip pads in hands and polydactyly of toes in patient 3Back to article page