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Case Reports
. 2011 Sep;48(9):593-6.
doi: 10.1136/jmedgenet-2011-100288.

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

Jacek Majewski  1 , Zibo Wang, Irma Lopez, Sulaiman Al Humaid, Huanan Ren, Julie Racine, Alex Bazinet, Grant Mitchel, Nancy Braverman, Robert K Koenekoop
Affiliations
Case Reports

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

Jacek Majewski et al. J Med Genet. 2011 Sep.
No abstract available

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  • Exome diagnostics: already a reality?
    Polychronakos C, Seng KC. Polychronakos C, et al. J Med Genet. 2011 Sep;48(9):579. doi: 10.1136/jmedgenet-2011-100385. J Med Genet. 2011. PMID: 21862672 No abstract available.

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