Familial SYN1 variants related neurodevelopmental disorders in Asian pediatric patients

Familial SYN1 variants related neurodevelopmental disorders in Asian pediatric patients

Abstract 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 fami...

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Bibliographic Details
Main Authors: Juan Xiong, Haolin Duan, Shimeng Chen, Miriam Kessi, Fang He, Xiaolu Deng, Ciliu Zhang, Li Yang, Jing Peng, Fei Yin
Format: Article
Language:English
Published: BMC 2021-07-01
Series:BMC Medical Genomics
Subjects:
SYN1
Variants
Neurodevelopmental disorders
Gender differences
Loss-of-function
Online Access:https://doi.org/10.1186/s12920-021-01028-4

Internet

https://doi.org/10.1186/s12920-021-01028-4

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