Familial SYN1 variants related neurodevelopmental disorders in Asian pediatric patients

BACKGROUND: SYN1 encodes synapsin I, which is a neuronal phosphoprotein involving in regulating axonogenesis and synaptogenesis. Variants in the gene have been associated with X-linked neurodevelopmental disorders in recent years. METHODS: In the study, we reported two male patients with familial SY...

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Dades bibliogràfiques
Publicat a:BMC Med Genomics
Autors principals: Xiong, Juan, Duan, Haolin, Chen, Shimeng, Kessi, Miriam, He, Fang, Deng, Xiaolu, Zhang, Ciliu, Yang, Li, Peng, Jing, Yin, Fei
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2021
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8272254/
https://ncbi.nlm.nih.gov/pubmed/34243774
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-021-01028-4
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