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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
Journal article   Peer reviewed

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

Jacek Majewski, Zibo Wang, Irma Lopez, Sulaiman Al Humaid, Huanan Ren, Julie Racine, Alex Bazinet, Grant Mitchel, Nancy Braverman and Robert K Koenekoop
Journal of medical genetics, Vol.48(9), pp.593-596
01/09/2011
PMID: 21862673

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