AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

Enza Maria Valente, Francesco Brancati, Jennifer L. Silhavy, Marco Castori, Sarah E. Marsh, Giuseppe Barrano, Enrico Bertini, Eugen Boltshauser, Maha S. Zaki, Alice Abdel-Aleem, Ghada M.H. Abdel-Salam, Emanuele Bellacchio, Roberta Battini, Robert P. Cruse, William B. Dobyns, Kalpathy S. Krishnamoorthy, Clotilde Lagier-Tourenne, Alex Magee, Ignacio Pascual-Castroviejo, Carmelo D. SalpietroDean Sarco, Bruno Dallapiccola, Joseph G. Gleeson

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Medicine & Life Sciences