De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

Early B cell factor 3 (EBF3) is an atypical transcription factor that is thought to influence the laminar formation of the cerebral cortex. Here, we report that de novo mutations in EBF3 cause a complex neurodevelopmental syndrome. The mutations were identified in two large-scale sequencing projects...

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Bibliografiset tiedot
Julkaisussa:Am J Hum Genet
Päätekijät: Sleven, Hannah, Welsh, Seth J., Yu, Jing, Churchill, Mair E.A., Wright, Caroline F., Henderson, Alex, Horvath, Rita, Rankin, Julia, Vogt, Julie, Magee, Alex, McConnell, Vivienne, Green, Andrew, King, Mary D., Cox, Helen, Armstrong, Linlea, Lehman, Anna, Nelson, Tanya N., Williams, Jonathan, Clouston, Penny, Hagman, James, Németh, Andrea H.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Elsevier 2017
Aiheet:
Report
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5223060/
https://ncbi.nlm.nih.gov/pubmed/28017370
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.11.020
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