Case Report: Clinical Features of a Chinese Boy With Epileptic Seizures and Intellectual Disabilities Who Carries a Truncated NUS1 Variant

The mental retardation-55 with seizures (MRD55) is a rare genetic disease characterized by developmental delay, intellectual disability, language delay and multiple types of epileptic seizures. It is caused by pathogenic variants of the NUS1 gene, which encodes Nogo-B receptor (NgBR), a necessary su...

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Detalles Bibliográficos
Autores principales: Zhang, Pingli, Cui, Di, Liao, Peiyuan, Yuan, Xiang, Yang, Nuan, Zhen, Yuanyuan, Yang, Jing, Huang, Qikun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8438189/
https://www.ncbi.nlm.nih.gov/pubmed/34532305
http://dx.doi.org/10.3389/fped.2021.725231

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8438189/
https://www.ncbi.nlm.nih.gov/pubmed/34532305
http://dx.doi.org/10.3389/fped.2021.725231

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