Truncating de novo mutations in the Kruppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms

Servi J. C. Stevens, Anthonie J. van Essen, Conny M. A. van Ravenswaaij, Abdallah F. Elias, Jaclyn A. Haven, Stefan H. Lelieveld, Rolph Pfundt, Willy M. Nillesen, Helger G. Yntema, Kees van Roozendaal, Alexander P. Stegmann, Christian Gilissen, Han G. Brunner

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Article number131
JournalGenome Medicine
Volume8
DOIs
Publication statusPublished - 13 Dec 2016

Keywords

  • ZNF148
  • ZBP-89
  • Whole exome sequencing
  • Intellectual disability
  • Corpus callosum development
  • De novo mutations
  • Premature termination codon

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