Publication
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 Signorini, Graziella Uziel, Maha S Zaki, Colin Johnson, Tania Attié-Bitach, Joseph G Gleeson, Enza Maria Valente
European Journal of Human Genetics, February 2013, Springer Science + Business Media
DOI: 10.1038/ejhg.2012.305