Hypomorphic mutations of TRIP11 cause odontochondrodysplasia

Anika Wehrle, Tomasz M. Witkos, Sheila Unger, Judith Schneider, John A. Follit, Johannes Hermann, Tim Welting, Virginia Fano, Marja Hietala, Nithiwat Vatanavicharn, Katharina Schoner, Juergen Spranger, Miriam Schmidts, Bernhard Zabel, Gregory J. Pazour, Agnes Bloch-Zupan, Gen Nishimura, Andrea Superti-Furga, Martin Lowe, Ekkehart Lausch

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Article number124701
Pages (from-to)1-23
Number of pages23
JournalJCI INSIGHT
Volume4
Issue number3
DOIs
Publication statusPublished - 7 Feb 2019

Keywords

  • SKELETAL DYSPLASIA
  • PROTEIN
  • ACHONDROGENESIS
  • GMAP-210
  • IFT20
  • TRAFFICKING
  • TRANSPORT
  • BINDING
  • CILIOPATHY
  • MEMBRANES

Cite this

Wehrle, A., Witkos, T. M., Unger, S., Schneider, J., Follit, J. A., Hermann, J., Welting, T., Fano, V., Hietala, M., Vatanavicharn, N., Schoner, K., Spranger, J., Schmidts, M., Zabel, B., Pazour, G. J., Bloch-Zupan, A., Nishimura, G., Superti-Furga, A., Lowe, M., & Lausch, E. (2019). Hypomorphic mutations of TRIP11 cause odontochondrodysplasia. JCI INSIGHT, 4(3), 1-23. [124701]. https://doi.org/10.1172/jci.insight.124701