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
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...
Main Authors: | Xuyun Hu, Di Wu, Yuchuan Li, Liya Wei, Xiaoqiao Li, Miao Qin, Hongdou Li, Mengting Li, Shaoke Chen, Chunxiu Gong, Yiping Shen |
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Format: | Article |
Language: | English |
Published: |
BMC
2020-12-01
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Series: | BMC Medical Genomics |
Subjects: | |
Online Access: | https://doi.org/10.1186/s12920-020-00831-9 |
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