title: A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing.
authors.affiliation: Department of Human Genetics, McGill University Health Centre, Montreal, Quebec, Canada.
authors.forename: Jacek
authors.initials: J
authors.lastname: Majewski
authors.forename: Zibo
authors.initials: Z
authors.lastname: Wang
authors.forename: Irma
authors.initials: I
authors.lastname: Lopez
authors.forename: Sulaiman
authors.initials: S
authors.lastname: Al Humaid
authors.forename: Huanan
authors.initials: H
authors.lastname: Ren
authors.forename: Julie
authors.initials: J
authors.lastname: Racine
authors.forename: Alex
authors.initials: A
authors.lastname: Bazinet
authors.forename: Grant
authors.initials: G
authors.lastname: Mitchel
authors.forename: Nancy
authors.initials: N
authors.lastname: Braverman
authors.forename: Robert K
authors.initials: RK
authors.lastname: Koenekoop
mesh_terms: D000328:Adult; D001139:Arnold-Chiari Malformation / Q000209:etiology / Q000235:genetics*; D059472:Exome; D005123:Eye / Q000473:pathology*; D015894:Genome, Human; D034381:Hearing Loss / Q000209:etiology / Q000235:genetics*; D006801:Humans; D007223:Infant; D057130:Leber Congenital Amaurosis / Q000209:etiology / Q000235:genetics*; D009154:Mutation; D018901:Peroxisomal Disorders / Q000150:complications / Q000235:genetics*; D010641:Phenotype; D017422:Sequence Analysis, DNA / Q000379:methods