Fig. 1
From: De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype
a & b Facial features of the proband including wide-spaced eyes, prominent nasal bridge continuing to forehead, abnormal teething and micrognathia. c Mild clinodactyly was noticed on both hands. d Sanger confirmation of the truncating variants detected in the pedigree. e Sketch map of NSD2 gene domains and variants location of previously reported cases. (PWWP: Pro-Trp-Trp-Pro conserved motif; HMG: High mobility group box; PHD: Plant Homeodomain finger; AWS: associated with SET domain; SET: suppressor of variegation, enhancer of zeste, and Trithorax domain)