Clinical characteristics of early retinal disease due to CDHR1 mutation

Molecular Vision

Volumn 19, Issue , 2013, Pages 2250-2259

  Ba Abbad, Rola ^a,b,d   Sergouniotis, Panagiotis I ^a,b   Plagnol, Vincent ^c   Robson, Anthony G ^a,b   Michaelides, Michel ^a,b   Holder, Graham E ^a,b   Webster, Andrew R ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d KING ABDUL AZIZ UNIVERSITY HOSPITAL   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

CADHERIN;

ADOLESCENT; ADULT; ARTICLE; AUTOFLUORESCENCE IMAGING; BLURRED VISION; CASE REPORT; CDHR1 GENE; CLINICAL FEATURE; CLINICAL STUDY; COLOR VISION DEFECT; CONE ROD DYSFUNCTION; CONSANGUINITY; CONTROLLED STUDY; DISEASE SEVERITY; ELECTRORETINOGRAM; ELECTRORETINOGRAPHY; EXOME; EXON; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; HUMAN; MALE; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; ONSET AGE; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; PERIMETRY; PHENOTYPE; PHOTOAVERSION; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINA CONE; RETINA EXAMINATION; RETINA MALFORMATION; RETINA ROD; RETINOPATHY; SENSORY SYSTEM ELECTROPHYSIOLOGY; SIBLING; VISUAL ACUITY; VISUAL DISORDER;

ADOLESCENT; BASE SEQUENCE; CADHERINS; ELECTROPHYSIOLOGICAL PHENOMENA; ELECTRORETINOGRAPHY; FEMALE; FUNDUS OCULI; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; RETINAL DISEASES; RETINITIS PIGMENTOSA; VISUAL FIELDS; YOUNG ADULT;

EID: 84887702981     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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