IQSEC2-related encephalopathy in male children: Novel mutations and phenotypes

The isoleucine–glutamine (IQ) motif and Sec7 domain-containing protein 2 (IQSEC2) gene, located at Xp11. 2, are associated with nervous system diseases, such as epilepsy, autism, and intellectual disabilities. Gender-related differences in the severity of phenotype severity have been described previ...

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Detalles Bibliográficos
Autores principales: Liu, Xinting, Zhang, Shan, Wan, Lin, Zhang, Xiaoli, Wang, Haiping, Zhang, Hongwei, Zhu, Gang, Liang, Yan, Yan, Huimin, Zhang, Bo, Yang, Guang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Molecular Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9577604/
https://www.ncbi.nlm.nih.gov/pubmed/36267700
http://dx.doi.org/10.3389/fnmol.2022.984776

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9577604/
https://www.ncbi.nlm.nih.gov/pubmed/36267700
http://dx.doi.org/10.3389/fnmol.2022.984776

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