Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss

• Egile Nagusiak: Justin A. Pater (Egilea), Jane Green (Egilea), Darren D. O'Rielly (Egilea), Anne Griffin (Egilea), Jessica Squires (Egilea), Taylor Burt (Egilea), Sara Fernandez (Egilea), Bridget Fernandez (Egilea), Jim Houston (Egilea), Jiayi Zhou (Egilea), Nicole M. Roslin (Egilea), Terry-Lynn Young (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2019-05-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

Abstract Background Usher syndrome, the most common form of inherited deaf-blindness, is unlike many other forms of syndromic hereditary hearing loss in that the extra aural clinical manifestations are also detrimental to communication. Usher syndrome patients with early onset deafness also experien...