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, Hulya Kayserili, Gonul Ogur, Andrea Poretti, Sabrina SignoriniGraziella 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, R. Koul, International JSRD Study Group

*Corresponding author for this work

Research output: Contribution to journalArticle

32 Citations (Scopus)

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