Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

J. den Hoed, E. de Boer, N. Voisin, A.J.M. Dingemans, N. Guex, L. Wiel, C. Nellaker, S.M. Amudhavalli, S. Banka, F.S. Bena, B. Ben-Zeev, V.R. Bonagura, A.L. Bruel, T. Brunet, H.G. Brunner, H.B. Chew, J. Chrast, L. Cimbalistiene, H. Coon, E.C. DelotF. Demurger, A.S. Denomme-Pichon, C. Depienne, D. Donnai, D.A. Dyment, O. Elpeleg, L. Faivre, C. Gilissen, L. Granger, B. Haber, Y. Hachiya, Y.H. Abedi, J. Hanebeck, J.Y. Hehir-Kwa, B. Horist, T. Itai, A. Jackson, R. Jewell, K.L. Jones, S. Joss, H. Kashii, M. Kato, A.A. Kattentidt-Mouravieva, F. Kok, U. Kotzaeridou, V. Krishnamurthy, V. Kucinskas, A. Kuechler, A. Lavillaureix, P.F. Liu, DDD Study

Research output: Contribution to journalArticleAcademicpeer-review

5 Citations (Web of Science)
Original languageEnglish
Pages (from-to)346-356
Number of pages11
JournalAmerican Journal of Human Genetics
Volume108
Issue number2
DOIs
Publication statusPublished - 4 Feb 2021

Keywords

  • MISSENSE MUTATIONS
  • BINDING PROTEIN
  • EXPRESSION
  • INTERLEUKIN-2
  • CHROMATIN
  • REGION
  • GENES

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