Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
Nature Genetics
Akizu, Naiara N; Cantagrel, Vincent V; Zaki, Maha S MS; Al-Gazali, Lihadh L; Wang, Xin X; Rosti, Rasim Ozgur RO; Dikoglu, Esra E; Gelot, Antoinette Bernabe AB; Rosti, Basak B; Vaux, Keith K KK; Scott, Eric M EM; Silhavy, Jennifer L JL; Schroth, Jana J; Copeland, Brett B; Schaffer, Ashleigh E AE; Gordts, Philip L S M PL; Esko, Jeffrey D JD; Buschman, Matthew D MD; Field, Seth J SJ; Napolitano, Gennaro G; Abdel-Salam, Ghada M GM; Ozgul, R Koksal RK; Sagıroglu, Mahmut Samil MS; Azam, Matloob M; Ismail, Samira S; Aglan, Mona M; Selim, Laila L; Mahmoud, Iman G IG; Abdel-Hadi, Sawsan S; Badawy, Amera El AE; Sadek, Abdelrahim A AA; Mojahedi, Faezeh F; Kayserili, Hulya H; Masri, Amira A; Bastaki, Laila L; Temtamy, Samia S; Müller, Ulrich U; Desguerre, Isabelle I; Casanova, Jean-Laurent JL; Dursun, Ali A; Gunel, Murat M; Gabriel, Stacey B SB; de Lonlay, Pascale P; Gleeson, Joseph G JG