Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders

Ethiraj Ravindran, Ramona Jühlen, Carlos H. Vieira-Vieira, Thuong Ha, Yuval Salzberg, Boris Fichtman, Lena Luise-Becker, Nuno Martins, Sylvie Picker-Minh, Paraskevi Bessa, Peer Arts, Matilda R. Jackson, Ajay Taranath, Benjamin Kamien, Christopher Barnett, Na Li, Victor Tarabykin, Gisela Stoltenburg-Didinger, Amnon Harel, Matthias SelbachAchim Dickmanns, Birthe Fahrenkrog, Hao Hu, Hamish Scott, Angela M. Kaindl

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Biochemistry, Genetics and Molecular Biology