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

*Corresponding author for this work

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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