Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders
scientific article published on 06 February 2013
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author: Enrico Bertini, Elizabeth Nickerson, Enza Maria Valente, Stacey Gabriel, Tania Attié-Bitach, Emily G. Spencer, Lorena Travaglini, Maha Zaki, Andrea Poretti, Eugen Boltshauser, Joseph G Gleeson, Graziella Uziel, Sophie Thomas, Jennifer L Silhavy, Sabrina Signorini, Miriam Iannicelli, Nadia Elkhartoufi, International JSRD Study Group, Bruria Ben Zeev
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