Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability.

@article{Aller2004MutationSO,
  title={Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability.},
  author={Elena Aller and Teresa Jaijo and Silvestre Oltra and Jorge Ali{\'o} and Francisco Poyales Gal{\'a}n and Carmen N{\'a}jera and Magdalena Beneyto and Jose M. Mill{\'a}n},
  journal={Clinical genetics},
  year={2004},
  volume={66 6},
  pages={
          525-9
        }
}
Usher syndrome type III is an autosomal recessive disorder clinically characterized by the association of retinitis pigmentosa (RP), variable presence of vestibular dysfunction and progressive hearing loss, being the progression of the hearing impairment the critical parameter classically used to distinguish this form from Usher syndrome type I and Usher syndrome type II. Usher syndrome type III clinical subtype is the rarest form of Usher syndrome in Spain, accounting only for 6% of all Usher… CONTINUE READING

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