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

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

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2011

Year

Isabelle Audo, Kinga M. Bujakowska, Saddek Mohand‐Saïd, Sophie Tronche, Marie‐Elise Lancelot, Aline Antonio, Aurore Germain, Christine Lonjou, Wassila Carpentier, José‐Alain Sahel,

Abstract

We report a novel truncating mutation in DFNB31 associated with severe rod-cone dystrophy and varying degrees of hearing impairment in a consanguineous family of Portuguese origin. This is the second report of DFNB31 implication in Usher type 2.

References

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