Novel Pathogenic Variants Underlie SLC26A4-related Hearing Loss in a Multiethnic Cohort

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. METHODS: Whole exome sequencin...

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محفوظ في:
التفاصيل البيبلوغرافية
الحاوية / القاعدة:Int J Pediatr Otorhinolaryngol
المؤلفون الرئيسيون: Cengiz, Filiz Basak, Yilmazer, Rasim, Olgun, Levent, Sennaroglu, Levent, Kirazli, Tayfun, Alper, Hudaver, Olgun, Yuksel, Incesulu, Armagan, Atik, Tahir, Hernandez, Fabiola Huesca, Domínguez-Aburto, Juan, González-Rosado, Garly, Hernandez-Zamora, Edgar, de la Luz Arenas-Sordo, Maria, Menendez, Ibis, Orhan, Kadir Serkan, Avci, Hakan, Mahdieh, Nejat, Bonyadi, Mortaza, Foster, Joseph, Duman, Duygu, Ozkinay, Ferda, Blanton, Susan H., Bademci, Guney, Tekin, Mustafa
التنسيق: Artigo
اللغة:Inglês
منشور في: 2017
الموضوعات:
Article
الوصول للمادة أونلاين:https://ncbi.nlm.nih.gov/pmc/articles/PMC5679420/
https://ncbi.nlm.nih.gov/pubmed/28964290
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ijporl.2017.08.006
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