SLC26A4 mutations are associated with a specific inner ear malformation.

Fitoz, Suat; Sennaroglu, Levent; Incesulu, ŞAZİYE; Cengiz, Filiz; Koc, Yasemin; Tekin, Mustafa

doi:10.1016/j.ijporl.2006.11.022

SLC26A4 mutations are associated with a specific inner ear malformation.

Atıf İçin Kopyala

Fitoz S., Sennaroglu L., Incesulu A., Cengiz F. B., Koc Y., Tekin M.

International journal of pediatric otorhinolaryngology, cilt.71, sa.3, ss.479-86, 2007 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 71 Sayı: 3
Basım Tarihi: 2007
Doi Numarası: 10.1016/j.ijporl.2006.11.022
Dergi Adı: International journal of pediatric otorhinolaryngology
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.479-86
Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

Background and aim: Inner ear anomalies have been reported in approximately 30% of children with early onset deafness. Identification of causative genetic factors in a large proportion of these patients was not successful. Mutations in the SLC26A4 gene have been detected in individuals with enlarged vestibular aqueduct (EVA) or Mondini dysplasia. We aimed to characterize the inner ear anomalies associated with SLC26A4 mutations.