Evidence for genotype-phenotype correlation for OTOF mutations

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Yildirim-Baylan M., Bademci G., DUMAN D., Ozturkmen-Akay H., TOKGÖZ YILMAZ S., Tekin M.

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, cilt.78, sa.6, ss.950-953, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 78 Sayı: 6
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1016/j.ijporl.2014.03.022
  • Dergi Adı: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.950-953
  • Anahtar Kelimeler: Auditory neuropathy, Autosomal recessive, Hearing loss, OTOF, OTOFERLIN GENE OTOF, AUDITORY NEUROPATHY, DEAFNESS, DFNB9, FORM, DOMAIN
  • Ankara Üniversitesi Adresli: Evet

Özet

Objectives: The aim of this study is to evaluate the auditory phenotype in subjects with OTOF gene mutations to describe genotype-phenotype correlations.