Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort
Makaleler > Tam Makale · 2017
Yazarlar: Filiz Basak Cengiz, Rasim Yilmazer, Levent OLGUN, LEVENT SENNAROĞLU, Tayfun KİRAZLI, Hudaver Alper, Yuksel OLGUN, Armagan Incesulu, Tahir ATİK, Fabiola HUESCA-HERNANDEZ, Juan DOMÍNGUEZ-ABURTO, Garly GONZÁLEZ-ROSADO, Edgar HERNANDEZ-ZAMORA, Maria de la Luz Arenas-Sordo, Ibis Menendez, Kadir Serkan Orhan, Hakan Avci, Nejat Mandieh, Mortaza BONYADİ, Joseph Foster, Duygu Duman, Feriştah Ferda ÖZKINAY, Susan H. Blanton, Guney Bademci, Mustafa Tekin
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2017, cilt 101, ss 167-171
DOI: 10.1016/j.ijporl.2017.08.006
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.