Neuroimaging Findings in Patients with EBF3 Mutations: Report of Two Cases

Early B cell factor 3 (EBF3) is a transcription factor involved in brain development. Heterozygous, loss-of-function mutations in EBF3 have been reported in an autosomal dominant neurodevelopmental syndrome characterized by hypotonia, ataxia, and developmental delay (sometimes described as “HADD”s)....

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Dettagli Bibliografici
Pubblicato in:Mol Syndromol
Autori principali: Jiménez de la Peña, Mar, Jiménez de Domingo, Ana, Tirado, Pilar, Calleja-Pérez, Beatriz, Alcaraz, Luis A., Álvarez, Sara, Williams, Jonathan, Hagman, James R., Németh, Andrea H., Fernández-Jaén, Alberto
Natura: Artigo
Lingua:Inglês
Pubblicazione: S. Karger AG 2021
Soggetti:
Novel Insights from Clinical Practice
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8215950/
https://ncbi.nlm.nih.gov/pubmed/34177436
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000513583
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