Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.


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Cengiz F. B. , Yilmazer R., Olgun L., SENNAROĞLU L., KİRAZLI T., Alper H., ...Daha Fazla

International journal of pediatric otorhinolaryngology, cilt.101, ss.167-171, 2017 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 101
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1016/j.ijporl.2017.08.006
  • Dergi Adı: International journal of pediatric otorhinolaryngology
  • Sayfa Sayıları: ss.167-171

Özet

Objectives: The genetics of sensorineural hearing loss is characterized by a high degree of heterogeneity. Despite this heterogeneity, DNA variants found within SLC26A4 have been reported to be the second most common contributor after those of GJB2 in many populations.