Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome

Tarih
2017
Yazar
Silhavy, Jennifer L.
Aslanger, Ayca Dilruba
Musaev, Damir
Infante, Sofia
Thuong, Whitney
Marin-Valencia, Isaac
Nelson, Stanley F.
Kayserili, Hulya
Gleeson, Joseph G.
Bilge, Ilmay
Altunoglu, Umut
Rosti, Rasim Ozgur
Sotak, Bethany N.
Bielas, Stephanie L.
Bhat, Gifty
Tasdemir, Mehmet
Yzaguirrem, Amanda D.
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Özet
Background Microcephaly with nephrotic syndrome is a rare co-occurrence, constituting the Galloway-Mowat syndrome (GAMOS), caused by mutations in WDR73 (OMIM: 616144). However, not all patients harbour demonstrable WDR73 deleterious variants, suggesting that there are other yet unidentified factors contributing to GAMOS aetiology.
Bağlantı
http://hdl.handle.net/20.500.12627/54632
https://doi.org/10.1136/jmedgenet-2016-104237
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