Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment

• Autors principals: Isabelle Schrauwen (Autor), Imen Chakchouk (Autor), Anushree Acharya (Autor), Khurram Liaqat (Autor), Irfanullah (Autor), University of Washington Center for Mendelian Genomics (Autor), Deborah A. Nickerson (Autor), Michael J. Bamshad (Autor), Khadim Shah (Autor), Wasim Ahmad (Autor), Suzanne M. Leal (Autor)
• Format: Llibre
• Publicat: BMC, 2018-07-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

Abstract Background Digenic inheritance is the simplest model of oligenic disease. It can be observed when there is a strong epistatic interaction between two loci. For both syndromic and non-syndromic hearing impairment, several forms of digenic inheritance have been reported. Methods We performed...