A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana

• Hauptverfasser: Samuel Mawuli Adadey (VerfasserIn), Elvis Twumasi Aboagye (VerfasserIn), Kevin Esoh (VerfasserIn), Anushree Acharya (VerfasserIn), Thashi Bharadwaj (VerfasserIn), Nicole S. Lin (VerfasserIn), Lucas Amenga-Etego (VerfasserIn), Gordon A. Awandare (VerfasserIn), Isabelle Schrauwen (VerfasserIn), Suzanne M. Leal (VerfasserIn), Ambroise Wonkam (VerfasserIn)
• Format: Buch
• Veröffentlicht: BMC, 2022-11-01T00:00:00Z.
• Schlagworte: article
• Online-Zugang: Connect to this object online.

Abstract Background Childhood hearing impairment (HI) is genetically heterogeneous with many implicated genes, however, only a few of these genes are reported in African populations. Methods This study used exome and Sanger sequencing to resolve the possible genetic cause of non-syndromic HI in a Gh...