Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

  • Lorena Travaglini
  • , Francesco Brancati
  • , Jennifer Silhavy
  • , Miriam Iannicelli
  • , Elizabeth Nickerson
  • , Nadia Elkhartoufi
  • , Eric Scott
  • , Emily Spencer
  • , Stacey Gabriel
  • , Sophie Thomas
  • , Bruria Ben-Zeev
  • , Enrico Bertini
  • , Eugen Boltshauser
  • , Malika Chaouch
  • , Maria Roberta Cilio
  • , Mirjam M. De Jong
  • , H. Kayserili
  • , Gonul Ogur
  • , Andrea Poretti
  • , Sabrina Signorini
    • Graziella Uziel, Maha S. Zaki, Colin Johnson, Tania Attié-Bitach, Joseph G. Gleeson, Enza Maria Valente*, L. Ali Pacha, A. Zankl, R. Leventer, P. Grattan-Smith, A. Janecke, J. Koch, M. Freilinger, M. D'Hooghe, Y. Sznajer, C. Vilain, R. Van Coster, L. Demerleir, K. Dias, C. Moco, A. Moreira, C. Ae Kim, G. Maegawa, I. Dakovic, D. Loncarevic, V. Mejaski-Bosnjak, D. Petkovic, G. M.H. Abdel-Salam, A. Abdel-Aleem, K. M. Girisha, International JSRD Study Group
*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

63 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology