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...

Full description

Saved in:
Bibliographic Details
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:
Online Access:Connect to this object online.
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

Connect to this object online.

3rd Floor Main Library

Holdings details from 3rd Floor Main Library
Call Number: A1234.567
Copy 1 Available