Article
Development of a genotyping microarray for Usher syndrome.
Journal of medical genetics - 1 Feb 2007
Cremers Frans P M, Kimberling William J, Külm Maigi, de Brouwer Arjan P, van Wijk Erwin, te Brinke Heleen, Cremers Cor W R J, Hoefsloot Lies H, Banfi Sandro, Simonelli Francesca, Fleischhauer Johannes C, Berger Wolfgang, Kelley Phil M, Haralambous Elene, Bitner-Glindzicz Maria, Webster Andrew R, Saihan Zubin, De Baere Elfride, Leroy Bart P, Silvestri Giuliana, McKay Gareth J, Koenekoop Robert K, Millan Jose M, Rosenberg Thomas, Joensuu Tarja, Sankila Eeva-Marja, Weil Dominique, Weston Mike D, Wissinger Bernd, Kremer Hannie
Abstract excerpt
BACKGROUND: Usher syndrome, a combination of retinitis pigmentosa (RP) and sensorineural hearing loss with or without vestibular dysfunction, displays a high degree of clinical and genetic heterogeneity. Three clinical subtypes can be distinguished, based on the age of onset and severity of the hearing impairment, and the presence or absence of vestibular abnormalities. Thus far, eight genes have been implicated...
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