Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

Suzanna G. M. Frints, Aysegul Ozanturk, German Rodriguez Criado, Ute Grasshoff, Bas de Hoon, Michael Field, Sylvie Manouvrier-Hanu, Scott E. Hickey, Molka Kammoun, Karen W. Gripp, Claudia Bauer, Christopher Schroeder, Annick Toutain, Theresa Mihalic Mosher, Benjamin J. Kelly, Peter White, Andreas Dufke, Eveline Rentmeester, Sungjin Moon, Daniel C. KoboldtKees E. P. van Roozendaal, Hao Hu, Stefan A. Haas, Hans-Hilger Ropers, Lucinda Murray, Eric Haan, Marie Shaw, Renee Carroll, Kathryn Friend, Jan Liebelt, Lynne Hobson, Marjan De Rademaeker, Joep Geraedts, Jean-Pierre Fryns, Joris Vermeesch, Martine Raynaud, Olaf Riess, Joost Gribnau, Nicholas Katsanis, Koen Devriendt, Peter Bauer, Jozef Gecz, Christelle Golzio, Cristina Gontan, Vera M. Kalscheuer

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)1748-1768
Number of pages21
JournalMolecular Psychiatry
Volume24
Issue number11
DOIs
Publication statusPublished - Nov 2019

Keywords

  • GENE UBE2A CAUSE
  • CHROMOSOME INACTIVATION
  • FUNCTIONAL-ACTIVITY
  • LIM COFACTORS
  • MUTATIONS
  • PROTEIN
  • RNF12
  • RLIM
  • NPAS3
  • TRANSCRIPTION

Cite this

Frints, S. G. M., Ozanturk, A., Rodriguez Criado, G., Grasshoff, U., de Hoon, B., Field, M., Manouvrier-Hanu, S., Hickey, S. E., Kammoun, M., Gripp, K. W., Bauer, C., Schroeder, C., Toutain, A., Mosher, T. M., Kelly, B. J., White, P., Dufke, A., Rentmeester, E., Moon, S., ... Kalscheuer, V. M. (2019). Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. Molecular Psychiatry, 24(11), 1748-1768. https://doi.org/10.1038/s41380-018-0065-x