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Mutations in EBF3 disturb transcriptional profiles and underlie a novel syndrome of intellectual disability, ataxia and facial dysmorphism

2016-08-03

Abstract excerpt

From a GeneMatcher-enabled international collaboration, we identified ten individuals with intellectual disability, speech delay, ataxia and facial dysmorphism and a mutation in EBF3 , encoding a transcription factor required for neuronal differentiation. Structural assessments, transactivation assays, in situ fractionation, RNA-seq and ChlP-seq experiments collectively show that the mutations are deleterious an...

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Literature Corpus work: db43c3a6-a718-559b-ade4-4597f317ba0c
DOI: 10.1101/067454

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Mutations in <i>EBF3</i> disturb transcriptional profiles and underlie a novel syndrome of intellectual disability, ataxia and facial dysmorphism

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