The first familial NSD2 cases with a novel variant in a Chinese father and daughter with atypical WHS facial features and a 7.5-year follow-up of growth hormone therapy

摘要

Pathogenic NSD2 variants. a. Distribution of pathogenic variants in the schematic representation of the NSD2 gene. The red variants (up) are previously reported in patients. The blue variant (down) is the novel variant identified in this study; b. Pedigrees and Sanger sequecing of the family with the pathgenic variant