Mutations in RPSA and NKX2-3 link development of the spleen and intestinal vasculature

Chantal Kerkhofs, Servi J. C. Stevens, Saul N. Faust, William Rae, Anthony P. Williams, Peter Wurm, Rune Ostern, Paul Fockens, Christiane Wuerfel, Martin Laass, Freddy Kokke, Alexander P. A. Stegmann, Han G. Brunner*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)196-202
Number of pages7
JournalHuman Mutation
Volume41
Issue number1
DOIs
Publication statusPublished - Jan 2020

Keywords

  • asplenia
  • homeobox gene
  • intestinal varices
  • NKX2-3
  • RPSA
  • whole-exome sequencing
  • TRANSCRIPTION FACTOR NKX2-3
  • IDIOPATHIC COLONIC VARICES
  • FAMILIAL VARICES
  • CONGENITAL ASPLENIA
  • HUMANS
  • MICE

Cite this

Kerkhofs, C., Stevens, S. J. C., Faust, S. N., Rae, W., Williams, A. P., Wurm, P., Ostern, R., Fockens, P., Wuerfel, C., Laass, M., Kokke, F., Stegmann, A. P. A., & Brunner, H. G. (2020). Mutations in RPSA and NKX2-3 link development of the spleen and intestinal vasculature. Human Mutation, 41(1), 196-202. https://doi.org/10.1002/humu.23909