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

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...

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Bibliographic Details
Main Authors: Xuyun Hu, Di Wu, Yuchuan Li, Liya Wei, Xiaoqiao Li, Miao Qin, Hongdou Li, Mengting Li, Shaoke Chen, Chunxiu Gong, Yiping Shen
Format: Article
Language:English
Published: BMC 2020-12-01
Series:BMC Medical Genomics
Subjects:
Wolf-Hirschhorn syndrome
NSD2 gene
Growth hormone therapy
Facial dysmorphism
Intellectual disability
Online Access:https://doi.org/10.1186/s12920-020-00831-9

Internet

https://doi.org/10.1186/s12920-020-00831-9

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