Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans

T.L. Le, L. Galmiche, J. Levy, P. Suwannarat, D.M. Hellebrekers, K. Morarach, F. Boismoreau, T.E.J. Theunissen, M. Lefebvre, A. Pelet, J. Martinovic, A. Gelot, F. Guimiot, A. Calleroz, C. Gitiaux, M. Hully, O. Goulet, C. Chardot, S. Drunat, Y. CapriC. Bole-Feysot, P. Nitschke, S. Whalen, L. Mouthon, H.E. Babcock, R. Hofstra, I.F.M. de Coo, A.C. Tabet, T.J. Molina, B. Keren, A. Brooks, H.J.M. Smeets, U. Marklund, C.T. Gordon, S. Lyonnet, J. Amiel*, N. Bondurand*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

4 Citations (Web of Science)
Original languageEnglish
Article number145837
Number of pages15
JournalJournal of Clinical Investigation
Volume131
Issue number6
DOIs
Publication statusPublished - 15 Mar 2021

Keywords

  • CONGENITAL CONTRACTURAL SYNDROME
  • CHRONIC INTESTINAL PSEUDOOBSTRUCTION
  • SYNDROME TYPE-2 LCCS2
  • HIRSCHSPRUNG-DISEASE
  • SMOOTH-MUSCLE
  • PERIPHERAL NEUROPATHY
  • STRUCTURAL-ANALYSIS
  • RET PROTOONCOGENE
  • SOX10 MUTATIONS
  • TYROSINE KINASE

Cite this