De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms

Z. Powis*, I. Petrik, J. S. Cohen, D. Escolar, J. Burton, C. M. A. van Ravenswaaij-Arts, D. A. Sival, A. P. A. Stegmann, T. Kleefstra, R. Pfundt, R. Chikarmane, A. Begtrup, R. Huether, S. Tang, D. N. Shinde

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)1030-1038
Number of pages9
JournalClinical Genetics
Volume93
Issue number5
DOIs
Publication statusPublished - 1 May 2018

Keywords

  • autism
  • clinical diagnostics
  • intellectual disability
  • KLF7
  • Kruppel-like transcription factors
  • whole-exome sequencing
  • zinc finger DNA-binding protein
  • TRANSCRIPTION FACTOR KLF7
  • 2Q33.3-Q34 INTERSTITIAL DELETION
  • INTELLECTUAL DISABILITY
  • FEATURES
  • EXPRESSION
  • MUTATIONS
  • PROTEINS
  • REGIONS
  • SMART
  • MODEL

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