Article
USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.
Molecular vision - 1 Jan 2012
Imtiaz Faiqa, Taibah Khalid, Bin-Khamis Ghada, Kennedy Shelley, Hemidan Amal, Al-Qahtani Faisal, Tabbara Khalid, Al Mubarak Bashayer, Ramzan Khushnooda, Meyer Brian F, Al-Owain Mohammed
Abstract excerpt
PURPOSE: Usher syndrome (USH) is an autosomal recessive disorder divided into three distinct clinical subtypes based on the severity of the hearing loss, manifestation of vestibular dysfunction, and the age of onset of retinitis pigmentosa and visual symptoms. To date, mutations in seven different genes have been reported to cause USH type 1 (USH1), the most severe form. Patients diagnosed with USH1 are known to...
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