Article
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.
BMC medical genomics - 4 Dec 2020
Hu Xuyun, Wu Di, Li Yuchuan, Wei Liya, Li Xiaoqiao, Qin Miao, Li Hongdou, Li Mengting, Chen Shaoke, Gong Chunxiu, Shen Yiping
Abstract excerpt
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 located within the 165 kb Wolf-Hirschhorn syndrome critical region was identified as the key causal gene responsible for most...
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