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A newborn with a pathogenic variant in ASXL2 expanding the phenotype of SHAPNS: a case report and literature review

Authors :
Meng Yuan
Yuanyuan Shan
Fanshu Xu
Lin Yang
Chengjun Sun
Ruoqian Cheng
Bingbing Wu
Zhehuan Zhang
Yun Cao
Rong Zhang
Wenhao Zhou
Guoqiang Cheng
Liyuan Hu
Source :
Translational Pediatrics. 12:86-96
Publication Year :
2023
Publisher :
AME Publishing Company, 2023.

Details

ISSN :
22244344 and 22244336
Volume :
12
Database :
OpenAIRE
Journal :
Translational Pediatrics
Accession number :
edsair.doi...........8de9264b70a178addbbb43b2a4aaf560
Full Text :
https://doi.org/10.21037/tp-22-220