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

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 reported in...

Descripción completa

Detalles Bibliográficos
Autores principales: Luo, Sukun, Hu, Yanqiu, Xiong, Ping, Tan, Li, Zhao, Peiwei, Huang, Yufeng, Xiao, Cuiping, Zhu, Hongmin, He, Xuelian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747544/
https://www.ncbi.nlm.nih.gov/pubmed/36251950
http://dx.doi.org/10.1002/mgg3.2068

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747544/
https://www.ncbi.nlm.nih.gov/pubmed/36251950
http://dx.doi.org/10.1002/mgg3.2068

Ejemplares similares