Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

L. Castilla-Vallmanya, K.K. Selmer, C. Dimartino, R. Rabionet, B. Blanco-Sanchez, S. Yang, M.R.F. Reijnders, A.J. van Essen, M. Oufadem, M.D. Vigeland, B. Stadheim, G. Houge, H. Cox, H. Kingston, J. Clayton-Smith, J.W. Innis, M. Iascone, A. Cereda, S. Gabbiadini, W.K. ChungV. Sanders, J. Charrow, E. Bryant, J. Millichap, A. Vitobello, C. Thauvin, F.T. Mau-Them, L. Faivre, G. Lesca, A. Labalme, C. Rougeot, N. Chatron, D. Sanlaville, K.M. Christensen, A. Kirby, R. Lewandowski, R. Gannaway, M. Aly, A. Lehman, L. Clarke, L. Graul-Neumann, C. Zweier, D. Lessel, B. Lozic, I. Aukrust, R. Peretz, R. Stratton, T. Smol, A. Dieux-Coeslier, J. Meira, Care4Rare Canada Consortium, Undiagnosed Diseases Network

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)1215-1226
Number of pages12
JournalGenetics in Medicine
Volume22
Issue number7
DOIs
Publication statusPublished - 1 Jul 2020

Keywords

  • activation
  • akt1
  • blepharophimosis
  • craniofacial development
  • genomic analysis
  • intellectual disability
  • leads
  • meningiomas
  • mutations
  • nf-kappa-b
  • patent ductus arteriosus
  • polyubiquitination
  • protein
  • target
  • traf7
  • TARGET
  • ACTIVATION
  • PROTEIN
  • GENOMIC ANALYSIS
  • MENINGIOMAS
  • AKT1
  • MUTATIONS
  • POLYUBIQUITINATION
  • NF-KAPPA-B
  • TRAF7
  • LEADS

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