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

Majewski, J., Wang, Z., Lopez, I., Humaid, S. A., Ren, H., Racine, J., … Koenekoop, R. K. (2011). 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, 48(9), 593–596. https://doi.org/10.1136/jmedgenet-2011-100288