A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss: in silico analysis of a case

• 主要な著者: Tohid Ghasemnejad (著者), Mahmoud Shekari Khaniani (著者), Jafar Nouri Nojadeh (著者), Sima Mansoori Derakhshan (著者)
• フォーマット: 図書
• 出版事項: BMC, 2022-02-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Abstract Background Hereditary hearing loss (HHL) is a common heterogeneous disorder affecting all ages, ethnicities, and genders. The most common form of HHL is autosomal recessive non-syndromic hearing loss (ARNSHL), in which there is no genotype-phenotype correlation in the majority of cases. Thi...