Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities

Lot Snijders Blok*, Arianna Vino, Joery den Hoed, Hunter R. Underhill, Danielle Monteil, Hong Li, Francis Jeshira Reynoso Santos, Wendy K. Chung, Michelle D. Amaral, Rhonda E. Schnur, Teresa Santiago-Sim, Yue Si, Han G. Brunner, Tjitske Kleefstra, Simon E. Fisher*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

3 Citations (Web of Science)
Original languageEnglish
Pages (from-to)534-542
Number of pages9
JournalGenetics in Medicine
Volume23
Issue number3
Early online date28 Oct 2020
DOIs
Publication statusPublished - Mar 2021

Keywords

  • DE-NOVO MUTATIONS
  • EXPRESSION
  • FORKHEAD-DOMAIN
  • FOXP4
  • GENE
  • IDENTIFICATION
  • INDIVIDUALS
  • MISSENSE MUTATIONS
  • PULMONARY
  • SPEECH
  • SUBFAMILY
  • congenital diaphragmatic hernia
  • de novo variants
  • language disorder
  • neurodevelopmental disorder
  • speech
  • HUMAN SPEECH

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