Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects
Roberta De Mori(University of Messina), Enza Maria Valente(University of Pavia), Silvia Tardivo(Fondazione Santa Lucia), Grazia M.S. Mancini(Erasmus MC), Maha S. Zaki(National Water Research Center), Marta Romani, Tommaso Biagini(Casa Sollievo della Sofferenza), Rachel Schot(Erasmus MC), Danila Anello(Fondazione Santa Lucia), Mahmoud Y. Issa(National Research Centre), Lucia Di Marcotullio(Istituto Pasteur), Barbara Illi(Institute of Molecular Biology and Pathology), Joël Fluss(University Hospital of Geneva), Alessia Micalizzi(University of Messina), William B. Dobyns(University of Minnesota), Antonella Casella(Fondazione Santa Lucia), Enrico Bertini(Bambino Gesù Children's Hospital), Stefano D’Arrigo(Areté Associates (United States)), Elisa Lorefice(Fondazione Santa Lucia), Sara Nuovo(University of Salerno), Susanne Roosing(Radboud University Nijmegen), Tommaso Mazza(Casa Sollievo della Sofferenza), Monia Ginevrino(University of Pavia), Romina Alfonsi(Istituto Pasteur), Luisa Chiapparini(Fondazione IRCCS Istituto Neurologico Carlo Besta), Autumn Sa’na Leggins(Children’s Institute), Joseph G. Gleeson(Children’s Institute), Jessica Rosati(Casa Sollievo della Sofferenza), Valentina Stanley(Children’s Institute), Damir Musaev(Yale University)
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