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

dc.contributor.authorSilhavy, Jennifer L.
dc.contributor.authorAslanger, Ayca Dilruba
dc.contributor.authorMusaev, Damir
dc.contributor.authorInfante, Sofia
dc.contributor.authorThuong, Whitney
dc.contributor.authorMarin-Valencia, Isaac
dc.contributor.authorNelson, Stanley F.
dc.contributor.authorKayserili, Hulya
dc.contributor.authorGleeson, Joseph G.
dc.contributor.authorBilge, Ilmay
dc.contributor.authorAltunoglu, Umut
dc.contributor.authorRosti, Rasim Ozgur
dc.contributor.authorSotak, Bethany N.
dc.contributor.authorBielas, Stephanie L.
dc.contributor.authorBhat, Gifty
dc.contributor.authorTasdemir, Mehmet
dc.contributor.authorYzaguirrem, Amanda D.
dc.date.accessioned2021-03-03T17:55:47Z
dc.date.available2021-03-03T17:55:47Z
dc.date.issued2017
dc.identifier.citationRosti R. O. , Sotak B. N. , Bielas S. L. , Bhat G., Silhavy J. L. , Aslanger A. D. , Altunoglu U., Bilge I., Tasdemir M., Yzaguirrem A. D. , et al., "Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome", JOURNAL OF MEDICAL GENETICS, cilt.54, sa.6, ss.399-403, 2017
dc.identifier.issn0022-2593
dc.identifier.otherav_4c3c859d-194f-44ba-a283-df66528c0b95
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/54632
dc.identifier.urihttps://doi.org/10.1136/jmedgenet-2016-104237
dc.description.abstractBackground 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.
dc.language.isoeng
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectTemel Bilimler
dc.titleHomozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome
dc.typeMakale
dc.relation.journalJOURNAL OF MEDICAL GENETICS
dc.contributor.departmentHoward Hughes Medical Institute , ,
dc.identifier.volume54
dc.identifier.issue6
dc.identifier.startpage399
dc.identifier.endpage403
dc.contributor.firstauthorID243423


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