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  • A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing

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Exomes
Communications
A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing

https://doi.org/10.1136/jmedgenet-2011-100288

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    Footnotes

    • Competing interests None.

    • Patient consent Obtained.

    • Ethics approval The Research Institute of McGill University Health Centre.

    • Provenance and peer review Not commissioned; externally peer reviewed.