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

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 w...

詳細記述

保存先:
書誌詳細
出版年:BMC Med Genomics
主要な著者: Hu, Xuyun, Wu, Di, Li, Yuchuan, Wei, Liya, Li, Xiaoqiao, Qin, Miao, Li, Hongdou, Li, Mengting, Chen, Shaoke, Gong, Chunxiu, Shen, Yiping
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2020
主題:
Research Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7716467/
https://ncbi.nlm.nih.gov/pubmed/33276791
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-020-00831-9
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