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


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 İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 54 Konu: 6
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1136/jmedgenet-2016-104237
  • Dergi Adı: JOURNAL OF MEDICAL GENETICS
  • Sayfa Sayıları: ss.399-403

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.