EBF3 Neurodevelopmental Disorder - GeneReviews® - NCBI Bookshelf
2021年5月6日 · EBF3 neurodevelopmental disorder (EBF3 -NDD) is associated with developmental delay (DD) / intellectual disability (ID), speech delay, gait or truncal ataxia, …
EBF3 Gene - GeneCards | COE3 Protein | COE3 Antibody
2024年12月24日 · EBF3 (EBF Transcription Factor 3) is a Protein Coding gene. Diseases associated with EBF3 include Hypotonia, Ataxia, And Delayed Development Syndrome and …
Early B Cell Factor 3 (EBF3) attenuates Parkinson's disease through ...
2024年6月1日 · Early B Cell Factor 3 (EBF3), a member of the highly evolutionarily conserved EBF-transcription factor family, is involved in neuronal development. EBF3 expression is low …
EBF3 Neurodevelopmental Disorder - PubMed
Clinical characteristics: EBF3 neurodevelopmental disorder (EBF3 -NDD) is associated with developmental delay (DD) / intellectual disability (ID), speech delay, gait or truncal ataxia, …
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome
Here, we report that mutations in early B cell factor 3 (EBF3 [MIM: 607407]) cause a neurodevelopmental disorder. The mutations were initially missed as a result of low …
EBF 转录因子 3（EBF3）基因 | MCE
该基因编码早期 B 细胞因子 (EBF) DNA 结合转录因子家族的成员。 EBF 蛋白参与 B 细胞分化、骨骼发育和神经发生，并且还可能起到肿瘤抑制因子的作用。 编码的蛋白质通过调节参与细 …
EBF3 EBF transcription factor 3 [ (human)] - National Center for ...
2025年2月8日 · findings indicate that mutations in EBF3 cause a genetic neurodevelopmental syndrome and suggest that loss of EBF3 function might mediate a subset of neurologic …
Entry - *607407 - EARLY B-CELL FACTOR 3; EBF3 - OMIM
2024年1月24日 · EBF3 is a COE transcription factor, which regulate neurogenesis and differentiation (see EBF1; 164343). RT-PCR analysis detected EBF3 expression in normal …
EBF3 early B-cell factor 3 - SFARI Gene
Heterozygous mutations in the EBF3 gene are associated with hypotonia, ataxia, and delayed development syndrome (HADDS; OMIM 617330), a neurodevelopmental syndrome …
Mutations in EBF3 Disturb Transcriptional Profiles and Cause ...
2017年1月5日 · Our findings demonstrate that variants disrupting EBF3-mediated transcriptional regulation cause intellectual disability and developmental delay and are present in ∼0.1% of …