A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium

Sophie Thomas, Kevin J. Wright, Stéphanie Le Corre, Alessia Micalizzi, Marta Romani, Avinash Abhyankar, Julien Saada, Isabelle Perrault, Jeanne Amiel, Julie Litzler, Emilie Filhol, Nadia Elkhartoufi, Mandy Kwong, Jean Laurent Casanova, Nathalie Boddaert, Wolfgang Baehr, Stanislas Lyonnet, Arnold Munnich, Lydie Burglen, Nicolas ChassaingFerechté Encha-Ravazi, Michel Vekemans, Joseph G. Gleeson, Enza Maria Valente, Peter K. Jackson, Iain A. Drummond, Sophie Saunier, Tania Attié-Bitach

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Medicine & Life Sciences