Article
Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families.
Mutation research - 1 Aug 2017
Alkowari Moza K, Vozzi Diego, Bhagat Shruti, Krishnamoorthy Navaneethakrishnan, Morgan Anna, Hayder Yousra, Logendra Barathy, Najjar Nehal, Gandin Ilaria, Gasparini Paolo, Badii Ramin, Girotto Giorgia, Abdulhadi Khalid
Abstract excerpt
Hereditary hearing loss is characterized by a very high genetic heterogeneity. In the Qatari population the role of GJB2, the worldwide HHL major player, seems to be quite limited compared to Caucasian populations. In this study we analysed 18 Qatari families affected by non-syndromic hearing loss using a targeted sequencing approach that allowed us to analyse 81 genes simultaneously. Thanks to this approach, 50%...
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