Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

Niki T. Loges, Dinu Antony, Ales Maver, Matthew A. Deardorff, Elif Yylmaz Gulec, Alper Gezdirici, Tabea Noethe-Menchen, Inga M. Hoeben, Lena Jelten, Diana Frank, Claudius Werner, Johannes Tebbe, Kaman Wu, Elizabeth Goldmuntz, Goran Cuturilo, Bryan Krock, Alyssa Ritter, Rim Hjeij, Zeineb Bakey, Petra PennekampBernd Dworniczak, Han Brunner, Borut Peterlin, Cansaran Tanidir, Heike Olbrich, Heymut Omran, Miriam Schmidts

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)995-1008
Number of pages14
JournalAmerican Journal of Human Genetics
Volume103
Issue number6
DOIs
Publication statusPublished - 6 Dec 2018

Keywords

  • LEFT-RIGHT ASYMMETRY
  • BODY ASYMMETRY
  • COMMON-CAUSE
  • DYSKINESIA
  • OUTER
  • RANDOMIZATION
  • HETEROTAXY
  • HEART
  • NEPHRONOPHTHISIS
  • IDENTIFICATION

Cite this

Loges, N. T., Antony, D., Maver, A., Deardorff, M. A., Gulec, E. Y., Gezdirici, A., Noethe-Menchen, T., Hoeben, I. M., Jelten, L., Frank, D., Werner, C., Tebbe, J., Wu, K., Goldmuntz, E., Cuturilo, G., Krock, B., Ritter, A., Hjeij, R., Bakey, Z., ... Schmidts, M. (2018). Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects. American Journal of Human Genetics, 103(6), 995-1008. https://doi.org/10.1016/j.ajhg.2018.10.020