Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome
Rasim Ozgur Rosti, Bethany N Sotak, Stephanie L Bielas, Gifty Bhat, Jennifer L Silhavy, Ayca Dilruba Aslanger, Umut Altunoglu, Ilmay Bilge, Mehmet Tasdemir, Amanda D Yzaguirrem, Damir Musaev, Sofia Infante, Whitney Thuong, Isaac Marin-Valencia, Stanley F Nelson, Hulya Kayserili, Joseph G Gleeson
Journal of Medical Genetics Jun 2017, 54 (6) 399-403; DOI: 10.1136/jmedgenet-2016-104237
