A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss

• Main Authors: Hossein Fahimi (Author), Samira Behroozi (Author), Sadaf Noavar (Author), Farshid Parvini (Author)
• 格式: 圖書
• 出版: BMC, 2021-02-01T00:00:00Z.
• 主題: article
• 在線閱讀: Connect to this object online.

Abstract Background Autosomal recessive non-syndromic hearing loss (ARNSHL) is genetically and phenotypically heterogeneous with over 110 genes causally implicated in syndromic and non-syndromic hearing loss. Here, we investigate the genetic etiology of deafness in two GJB2 and GJB6 negative patient...