Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene

Vision Research

Volumn 75, Issue , 2012, Pages 77-87

  Cox, Kyle F ^a   Kerr, Natalie C ^a   Kedrov, Marina ^a   Nishimura, Darryl ^b   Jennings, Barbara J ^a   Stone, Edwin M ^b,c   Sheffield, Val C ^b,c   Iannaccone, Alessandro ^a  

^a UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

Bardet Biedl syndrome; BBS1 gene; Electroretinogram; M390R mutation; Phenotype genotype correlation; Photoreceptors; Retinal degeneration; Retinal imaging; Retinal nerve fiber layer; Visual fields

Indexed keywords

ARGININE; DOCOSAHEXAENOIC ACID; METHIONINE; RETINOL PALMITATE; XANTHOPHYLL;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; ASPERGER SYNDROME; ASTHMA; ASTIGMATISM; AUTOFLUORESCENCE IMAGING; BARDET BIEDL SYNDROME; BBS1 GENE; BLEPHAROSPASM; CASE REPORT; CLINODACTYLY; COGNITION; DARK ADAPTATION; DEVELOPMENTAL DISORDER; DISEASE COURSE; ELECTRORETINOGRAPHY; EYE EXAMINATION; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; HEADACHE; HOMOZYGOSITY; HUMAN; LIGHT ADAPTATION; MALE; NIGHT BLINDNESS; NYSTAGMUS; OBESITY; PATHOGENESIS; PERIMETRY; PHENOTYPE; PHOTORECEPTOR INNER SEGMENT; PHOTORECEPTOR OUTER SEGMENT; POLYDACTYLY; PRIORITY JOURNAL; PTOSIS; RETINA FOVEA; RETINA MACULA DEGENERATION; RETINA MACULOPATHY; SCOTOMA; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; VISUAL ACUITY;

EID: 84871740869     PISSN: 00426989     EISSN: 18785646     Source Type: Journal    
DOI: 10.1016/j.visres.2012.08.005     Document Type: Article

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