Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients

Retina

Volumn 31, Issue 3, 2011, Pages 581-595

  Kinnick, Tyson R ^a   Mullins, Robert F ^a   Dev, Sundeep ^b   Leys, Monique ^c   Mackey, David A ^d   Kay, Christine N ^a   Lam, Byron L ^e   Fishman, Gerald A ^f   Traboulsi, Elias ^g   Iezzi, Raymond ^h   Stone, Edwin M ^a  

^a UNIVERSITY OF IOWA   (United States)

^b VitreoRetinal Surgery   (United States)

^c WEST VIRGINIA UNIVERSITY   (United States)

^d UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^e UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

^g LERNER RESEARCH INSTITUTE   (United States)

^h MAYO CLINIC   (United States)

Author keywords

arVMD; BEST1; EOG; genotype; hBest1; phenotype; proband

Indexed keywords

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE VITELLIFORM MACULAR DYSTROPHY; BEST1 GENE; BLOOD SAMPLING; CHILD; CONTROLLED STUDY; GENE; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MEDICAL RECORD REVIEW; MOLECULAR DIAGNOSIS; MUTATION; PHENOTYPE; PRESCHOOL CHILD; RETINA MACULA VITELLIFORM DEGENERATION; RETINOGRAPHY; SCHOOL CHILD; SCREENING;

ADOLESCENT; ADULT; AGED; ALLELES; CHILD; CHILD, PRESCHOOL; CHLORIDE CHANNELS; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; PROSPECTIVE STUDIES; RETROSPECTIVE STUDIES; VISUAL ACUITY; VITELLIFORM MACULAR DYSTROPHY;

EID: 79952314973     PISSN: 0275004X     EISSN: None     Source Type: Journal    
DOI: 10.1097/IAE.0b013e318203ee60     Document Type: Article

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