De novo variants in MAST4 related to neurodevelopmental disorders with developmental delay and infantile spasms: Genotype-phenotype association

OBJECTIVE: This study aims to prove that the de novo variants in MAST4 gene are associated with neurodevelopmental disorders (NDD) with developmental delay (DD) and infantile spasm (IS) and to determine the genotype-phenotype correlations. METHODS: Trio-based exome sequencing (ES) was performed on t...

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Detalles Bibliográficos
Autores principales: Zhang, Xi, Xiao, Neng, Cao, Yang, Peng, Ying, Lian, Aojie, Chen, Yuanlu, Wang, Pengchao, Gu, Weiyue, Xiao, Bo, Yu, Jing, Wang, Hua, Shu, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9992645/
https://www.ncbi.nlm.nih.gov/pubmed/36910266
http://dx.doi.org/10.3389/fnmol.2023.1097553

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9992645/
https://www.ncbi.nlm.nih.gov/pubmed/36910266
http://dx.doi.org/10.3389/fnmol.2023.1097553

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