Homozygous deletion in CDH3 and hypotrichosis with juvenile macular dystrophy

Archives of Ophthalmology

Volumn 130, Issue 11, 2012, Pages 1490-1492

  Halford, Stephanie ^a   Holt, Richard ^a   Németh, Andrea H ^a,b   Downes, Susan M ^a,c  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b CHURCHILL HOSPITAL   (United Kingdom)

^c OXFORD EYE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; P CADHERIN; PROTEIN CDH3; UNCLASSIFIED DRUG;

ADULT; BASE PAIRING; CASE REPORT; ELECTROPHYSIOLOGY; ELECTRORETINOGRAPHY; EXON; GENE AMPLIFICATION; GENE DELETION; HOMOZYGOTE; HUMAN; HYPOTRICHOSIS; INTRON; LETTER; MALE; MUTATIONAL ANALYSIS; OPHTHALMOSCOPY; PHENOTYPE; PHOTOSENSITIVITY; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; SEQUENCE ANALYSIS; STARGARDT DISEASE; VISUAL FIELD DEFECT; WILD TYPE;

BASE SEQUENCE; CADHERINS; DIAGNOSIS, DIFFERENTIAL; DNA; DNA MUTATIONAL ANALYSIS; HOMOZYGOTE; HUMANS; HYPOTRICHOSIS; MACULAR DEGENERATION; MALE; MIDDLE AGED; MUTATION; SEQUENCE DELETION;

EID: 84869105687     PISSN: 00039950     EISSN: 15383601     Source Type: Journal    
DOI: 10.1001/archophthalmol.2012.708     Document Type: Letter

References (7)

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