A heterozygous missense variant in the YWHAG gene causing developmental and epileptic encephalopathy 56 in a Chinese family

BACKGROUND: Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of severe disorders that are characterized by early-onset, refractory seizures and developmental slowing or regression. Genetic variations are significant causes of these changes. De novo variants in an increas...

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Detalles Bibliográficos
Autores principales: Yi, Zhi, Song, Zhenfeng, Xue, Jiao, Yang, Chengqing, Li, Fei, Pan, Hua, Feng, Xuan, Zhang, Ying, Pan, Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9569127/
https://www.ncbi.nlm.nih.gov/pubmed/36243722
http://dx.doi.org/10.1186/s12920-022-01377-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9569127/
https://www.ncbi.nlm.nih.gov/pubmed/36243722
http://dx.doi.org/10.1186/s12920-022-01377-8

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