A novel frameshift variant in SON causes Zhu‐Tokita‐Takenouchi‐Kim Syndrome

BACKGROUND: Zhu‐Tokita‐Takenouchi‐Kim syndrome is a severe multisystem developmental disorder characterized by intellectual disability, developmental delay, malformations of the cerebral cortex, epilepsy, vision problems, musculoskeletal abnormalities, and congenital malformations. This syndrome is...

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Detalles Bibliográficos
Autores principales: Tan, Ya, Duan, Ling, Yang, Kai, Liu, Qian, Wang, Jing, Dong, Zhe, Li, Zhi, He, Yiwen, Yan, Yousheng, Lin, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7439338/
https://www.ncbi.nlm.nih.gov/pubmed/32291808
http://dx.doi.org/10.1002/jcla.23326

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