Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

Stephanie L. Bielas, Jennifer L. Silhavy, Francesco Brancati, Marina V. Kisseleva, Lihadh Al-Gazali, Laszlo Sztriha, Riad A. Bayoumi, Maha S. Zaki, Alice Abdel-Aleem, Rasim Ozgur Rosti, Hulya Kayserili, Dominika Swistun, Lesley C. Scott, Enrico Bertini, Eugen Boltshauser, Elisa Fazzi, Lorena Travaglini, Seth J. Field, Stephanie Gayral, Monique JacobyStephane Schurmans, Bruno Dallapiccola, Philip W. Majerus, Enza Maria Valente, Joseph G. Gleeson

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332 Citations (Scopus)

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Medicine & Life Sciences