Clinical phenotype of posterior polymorphous corneal dystrophy in a family with a novel ZEB1 mutation

Acta Ophthalmologica

Volumn 88, Issue 6, 2010, Pages 695-699

  Nguyen, Dan Q ^a   Hosseini, Mohsen ^b   Billingsley, Gail ^b   Héon, Elise ^b   Churchill, Amanda J ^a  

^a BRISTOL EYE HOSPITAL   (United Kingdom)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

electrophysiology; gene; mutation; photoreceptor; posterior polymorphous corneal dystrophy; PPCD; ZEB1

Indexed keywords

GENOMIC DNA;

ARTICLE; CELL COUNT; CONNECTIVE TISSUE DISEASE; CORNEA DYSTROPHY; CORNEA ENDOTHELIUM; DNA EXTRACTION; ENDOTHELIUM CELL; EXON; GENE MUTATION; GENE SEQUENCE; GLAUCOMA; HYDROCELE; INGUINAL HERNIA; PHENOTYPE; POLYMERASE CHAIN REACTION; POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ADOLESCENT; ADULT; CELL COUNT; CHILD; CHILD, PRESCHOOL; CORNEAL DYSTROPHIES, HEREDITARY; CORNEAL ENDOTHELIAL CELL LOSS; DNA MUTATIONAL ANALYSIS; ENDOTHELIUM, CORNEAL; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; TRANSCRIPTION FACTORS;

EID: 77956200228     PISSN: 1755375X     EISSN: 17553768     Source Type: Journal    
DOI: 10.1111/j.1755-3768.2009.01511.x     Document Type: Article

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