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

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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Bibliographic Details
Main Authors: Jitao Zhu, Wenhui Li, Sha Yu, Wei Lu, Qiong Xu, Sujuan Wang, Yanyan Qian, Qiufang Guo, Suzhen Xu, Yao Wang, Ping Zhang, Xuemei Zhao, Qi Ni, Renchao Liu, Xu Li, Bingbing Wu, Shuizhen Zhou, Huijun Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-03-01
Series:Frontiers in Pediatrics
Subjects:
neurodevelopmental disorders (NDDs)
exome sequencing
EBF3 gene
novel variants
copy number variations (CNVs)
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.1091532/full

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https://www.frontiersin.org/articles/10.3389/fped.2023.1091532/full

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