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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 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

Abstract excerpt

No abstract is available from the source.

Topics

Adult
Arnold-Chiari Malformation
Exome
Eye
Genome, Human
Hearing Loss
Humans
Infant
Leber Congenital Amaurosis
Mutation
Peroxisomal Disorders
Phenotype
Sequence Analysis, DNA

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

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

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