Further delineation of EBF3-related syndromic neurodevelopmental disorder in twelve Chinese patients

Neurodevelopmental disorders (NDDs) have heterogeneity in both clinical characteristics and genetic factors. EBF3 is a recently discovered gene associated with a syndromic form of NDDs characterized by hypotonia, ataxia and facial features. In this study, we report twelve unrelated individuals with...

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Detalles Bibliográficos
Autores principales: Zhu, Jitao, Li, Wenhui, Yu, Sha, Lu, Wei, Xu, Qiong, Wang, Sujuan, Qian, Yanyan, Guo, Qiufang, Xu, Suzhen, Wang, Yao, Zhang, Ping, Zhao, Xuemei, Ni, Qi, Liu, Renchao, Li, Xu, Wu, Bingbing, Zhou, Shuizhen, Wang, Huijun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10020332/
https://www.ncbi.nlm.nih.gov/pubmed/36937983
http://dx.doi.org/10.3389/fped.2023.1091532

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10020332/
https://www.ncbi.nlm.nih.gov/pubmed/36937983
http://dx.doi.org/10.3389/fped.2023.1091532

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