Whole-genome sequencing combined RNA-sequencing analysis of patients with mutations in SET binding protein 1

SET binding protein 1 (SETBP1) is essential for human development, and pathogenic germline variants in SETBP1 lead to a recognizable developmental syndrome and variable clinical features. In this study, we assessed a patient with facial dysmorphism, intellectual disability and delayed motor developm...

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Detalles Bibliográficos
Autores principales: Liu, Li, Feng, Xiaoshu, Liu, Sihan, Zhou, Yanqiu, Dong, Xiaojing, Yao, Hong, Tan, Bo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9490002/
https://www.ncbi.nlm.nih.gov/pubmed/36161179
http://dx.doi.org/10.3389/fnins.2022.980000

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9490002/
https://www.ncbi.nlm.nih.gov/pubmed/36161179
http://dx.doi.org/10.3389/fnins.2022.980000

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