Article
Auditory dysfunction in type 2 Stickler Syndrome.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery - 1 Jul 2021
Alexander Philip, Gomersall Philip, Stancel-Lewis Jack, Fincham Gregory Scott, Poulson Arabella, Richards Allan, McNinch Annie, Baguley David M, Snead Martin
Abstract excerpt
PURPOSE: To present the extent and site of lesion of auditory dysfunction in a large cohort of individuals with type 2 Stickler Syndrome. Type 2 Stickler Syndrome results from a mutation in the gene coding for α-1 type XI pro-collagen, which has been identified in the human vitreous, cartilage and the cochlea of the mouse. The condition is characterised by classic ocular abnormalities, auditory dysfunction,...
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