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

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Veröffentlicht in:	Journal of medical genetics 2011-09, Vol.48 (9), p.593-596
Hauptverfasser:	Majewski, Jacek, Wang, Zibo, Lopez, Irma, Al Humaid, Sulaiman, Ren, Huanan, Racine, Julie, Bazinet, Alex, Mitchel, Grant, Braverman, Nancy, Koenekoop, Robert K
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Arnold-Chiari Malformation - etiology Arnold-Chiari Malformation - genetics Biological and medical sciences Cell biology clinical genetics Congenital diseases endocrine system Exome Eye - pathology Fatty acids Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genes genetic screening/counselling Genetics of eukaryotes. Biological and molecular evolution Genome, Human genome-wide Genotype & phenotype getting research into practice Hearing loss Hearing Loss - etiology Hearing Loss - genetics Humans immunology (including allergy) Infant Intellectual disabilities Leber Congenital Amaurosis - etiology Leber Congenital Amaurosis - genetics Medical genetics Medical sciences metabolic disorders Molecular and cellular biology molecular genetics Mutation ophthalmology other endocrinology drugs Oxidation Patients Peroxisomal Disorders - complications Peroxisomal Disorders - genetics Phenotype Sequence Analysis, DNA - methods Systemic diseases vision research
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