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EBF3 Gene-Related Fetal Phenotypes
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作者 Yuxia He Jing Zhao +7 位作者 Jin Wang Shengfang Qin Zhuo Zhang Yan Yin Mengjia Yan Yitong Zhao fengqiu deng Xueyan Wang 《Maternal-Fetal Medicine》 2025年第2期109-111,共3页
To editor:The EBF3(early B cytokine 3)gene encodes early and highly conserved B cytokine transcription factors that play crucial roles in B lymphocyte differentiation,skeletal phylogeny,and the genesis and differentia... To editor:The EBF3(early B cytokine 3)gene encodes early and highly conserved B cytokine transcription factors that play crucial roles in B lymphocyte differentiation,skeletal phylogeny,and the genesis and differentiation of neurons.These transcription factors are highly expressed in the developing nervous system.Heterozygous mutations or deletions of the EBF3 gene can lead to autosomal dominant HADDS(Hypotonia,Ataxia,and Delayed Development Syndrome),characterized by intellectual disability,neurodevelopmental disorders(NDDs),and facial malformations.1 Written informed consent has been obtained for the publication. 展开更多
关键词 PHENOTYPE EBF3 gene fetal phenotypes Dystonia-ataxia and developmental delay syndrome Gene mutation
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