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Article

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

Journal of medical genetics - 1 Sept 2011

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

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PMID: 21862673
DOI: 10.1136/jmedgenet-2011-100288

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