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

• Main Authors: Jitao Zhu (Author), Wenhui Li (Author), Sha Yu (Author), Wei Lu (Author), Qiong Xu (Author), Sujuan Wang (Author), Yanyan Qian (Author), Qiufang Guo (Author), Suzhen Xu (Author), Yao Wang (Author), Ping Zhang (Author), Xuemei Zhao (Author), Qi Ni (Author), Renchao Liu (Author), Xu Li (Author), Bingbing Wu (Author), Shuizhen Zhou (Author), Huijun Wang (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...