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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書誌詳細
主要な著者:	Sleven, H, Welsh, S, Yu, J, Churchill, M, Wright, C, Henderson, A, Horvath, R, Rankin, J, Vogt, J, Magee, A, McConnell, V, Green, A, King, M, Cox, H, Armstrong, L, Lehman, A, Nelson, T, Deciphering Developmental Disorders study, CAUSES study, Williams, J, Clouston, P, Hagman, J, Németh, A
フォーマット:	Journal article
言語:	English
出版事項:	Elsevier 2016

De novo mutations in EBF3 cause a neurodevelopmental syndrome

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