Atıf İçin Kopyala
Rosti R. O., Sotak B. N., Bielas S. L., Bhat G., Silhavy J. L., Aslanger A. D., ...Daha Fazla
JOURNAL OF MEDICAL GENETICS, cilt.54, sa.6, ss.399-403, 2017 (SCI-Expanded)
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Yayın Türü:
Makale / Tam Makale
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Cilt numarası:
54
Sayı:
6
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Basım Tarihi:
2017
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Doi Numarası:
10.1136/jmedgenet-2016-104237
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Dergi Adı:
JOURNAL OF MEDICAL GENETICS
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Derginin Tarandığı İndeksler:
Science Citation Index Expanded (SCI-EXPANDED), Scopus
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Sayfa Sayıları:
ss.399-403
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İstanbul Üniversitesi Adresli:
Evet
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.