A novel variant in the HX repeat motif of ATN1 in a Chinese patient with CHEDDA syndrome and literature review

A novel variant in the HX repeat motif of ATN1 in a Chinese patient with CHEDDA syndrome and literature review

Abstract Background CHEDDA syndrome is a rare neurodevelopmental syndrome caused by heterozygous missense or indel variants in the HX repeat motif of ATN1 gene. To date, CHEDDA has been identified in a few ethnic groups, and only 17 patients have been reported in literature, and no case has been rep...

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Bibliographic Details
Main Authors: Sukun Luo, Yanqiu Hu, Ping Xiong, Li Tan, Peiwei Zhao, Yufeng Huang, Cuiping Xiao, Hongmin Zhu, Xuelian He
Format: Article
Language:English
Published: Wiley 2022-12-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
ATN1
CHEDDA
developmental delay
HX repeat motif
Online Access:https://doi.org/10.1002/mgg3.2068

Internet

https://doi.org/10.1002/mgg3.2068

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