Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
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author: Jean-Laurent Casanova, Lihadh Al-Gazali, Hülya Kayserili, Rasim Özgür Rosti, Ashleigh Schaffer, Vincent Cantagrel, Ghada M Abdel-Salam, Maha Zaki, Brett Copeland, Samira Ismail, Mona S Aglan, Samia A Temtamy, Gennaro Napolitano, Stacey Gabriel, Joseph G Gleeson, Jennifer L Silhavy, Jana Schroth, Matloob Azam, Keith K Vaux, Amira Masri, Naiara Akizu, Esra Dikoglu, Basak Rosti, Isabelle Desguerre, Murat Günel, Pascale de Lonlay
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