Article
USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele.
Clinical genetics - 1 Feb 2003
Ouyang X M, Hejtmancik J F, Jacobson S G, Xia X J, Li A, Du L L, Newton V, Kaiser M, Balkany T, Nance W E, Liu X-Z
Abstract excerpt
Usher syndrome (USH) is characterized by the associated findings of hearing loss and retinitis pigmentosa (RP), leading to progressive loss of vision. Three forms of USH can be distinguished clinically. In the most severe form, USH1, profound congenital deafness is associated with vestibular dysfunction and RP. To determine the frequency of USH1C mutations as a cause for USH1, 128 probands with Usher syndrome...
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