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

• Main Authors: Xuyun Hu (Author), Di Wu (Author), Yuchuan Li (Author), Liya Wei (Author), Xiaoqiao Li (Author), Miao Qin (Author), Hongdou Li (Author), Mengting Li (Author), Shaoke Chen (Author), Chunxiu Gong (Author), Yiping Shen (Author)
• Format: Book
• Published: BMC, 2020-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Wolf-Hirschhorn syndrome is a well-characterized genomic disorder caused by 4p16.3 deletions. Wolf-Hirschhorn syndrome patients exhibit characteristic facial dysmorphism, growth retardation, developmental delay, intellectual disability and seizure disorders. Recently, NSD2 gene l...