Novel EYA1 variants causing Branchio-oto-renal syndrome.


Klingbeil K. D. , Greenland C. M. , ArsIan S. , Paneque A. L. , GÜRKAN H., Ulusal S. D. , ...Daha Fazla

International journal of pediatric otorhinolaryngology, cilt.98, ss.59-63, 2017 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 98
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1016/j.ijporl.2017.04.037
  • Dergi Adı: International journal of pediatric otorhinolaryngology
  • Sayfa Sayıları: ss.59-63

Özet

Introduction: Branchio-oto-renal (BOR) syndrome is an autosomal dominant genetic disorder characterized by second branchial arch anomalies, hearing impairment, and renal malformations. Pathogenic mutations have been discovered in several genes such as EYA1, SIX5, and SIXI. However, nearly half of those affected reveal no pathogenic variant by traditional genetic testing.