A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.

@inproceedings{Audo2011AND,
  title={A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.},
  author={Isabelle Audo and Kinga M. Bujakowska and Saddek Mohand-Sa{\"i}d and Sophie Tronche and Marie-Elise Lancelot and Aline Antonio and Aurore Germain and Christine Lonjou and Wassila Carpentier and Jos{\'e} Alain Sahel and Shomi Shanker Bhattacharya and Christina Zeitz},
  booktitle={Molecular vision},
  year={2011}
}
PURPOSE To identify the genetic defect of a consanguineous Portuguese family with rod-cone dystrophy and varying degrees of decreased audition. METHODS A detailed ophthalmic and auditory examination was performed on a Portuguese patient with severe autosomal recessive rod-cone dystrophy. Known genetic defects were excluded by performing autosomal recessive retinitis pigmentosa (arRP) genotyping microarray analysis and by Sanger sequencing of the coding exons and flanking intronic regions of… CONTINUE READING

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Sequence variants of the DFNB31 gene among Usher Molecular Vision

  • E Aller, T Jaijo, +12 authors JM. Millán
  • 2011
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