Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene

Vyne van der Schoot, Sonja de Munnik, Hanka Venselaar, Mariet Elting, Grazia M. S. Mancini, Conny M. A. Ravenswaaij-Arts, Britt-Marie Anderlid, Han G. Brunner, Servi J. C. Stevens

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)393-400
Number of pages8
JournalMolecular genetics & genomic medicine
Volume6
Issue number3
DOIs
Publication statusPublished - 1 May 2018

Keywords

  • C2H2zinc finger (ZNF) domain
  • corpus callosum anomalies
  • homology modeling
  • intellectual disability
  • ZBTB18
  • DE-NOVO MUTATIONS
  • INTELLECTUAL DISABILITY
  • PHENOTYPES
  • DEFINES
  • 1Q43Q44
  • RP58

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