Identification of Six Novel Mutations in ZEB1 and Description of the Associated Phenotypes in Patients with Posterior Polymorphous Corneal Dystrophy 3

Annals of Human Genetics

Volumn 79, Issue 1, 2015, Pages 1-9

  Evans, Cerys J ^a   Liskova, Petra ^a,b,c   Dudakova, Lubica ^b   Hrabcikova, Pavlina ^d   Horinek, Ales ^c   Jirsova, Katerina ^b   Filipec, Martin ^e   Hardcastle, Alison J ^a   Davidson, Alice E ^a   Tuft, Stephen J ^a,f  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^c CHARLES UNIVERSITY   (Czech Republic)

^d PALACKÝ UNIVERSITY   (Czech Republic)

^e European Eye Clinic Lexum   (Czech Republic)

^f MOORFIELDS EYE HOSPITAL   (United Kingdom)

Author keywords

Phenotype; Posterior polymorphous corneal dystrophy type 3; ZEB1

Indexed keywords

TRANSCRIPTION FACTOR ZEB1; HOMEODOMAIN PROTEIN; RNA SPLICING; STOP CODON; TRANSCRIPTION FACTOR; ZEB1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BINDING SITE; CAUCASIAN; CHILD; CLINICAL ARTICLE; CODON; CORNEA DYSTROPHY; CORNEA EDEMA; CORNEA OPACITY; CRYPTORCHISM; DESCEMET MEMBRANE; DIVERGENT STRABISMUS; EXON; FEMALE; FOLLOW UP; FRAMESHIFT MUTATION; GENE IDENTIFICATION; GENE MUTATION; GENOTYPE; GLAUCOMA; HUMAN; KERATOMETER; KERATOMETRY; KERATOPATHY; MALE; NONSENSE MUTATION; NYSTAGMUS; OPHTHALMIC CAMERA; PEDIATRIC SURGERY; PENETRATING KERATOPLASTY; PHENOTYPE; POSTERIOR POLYMORPHOUS CORNEA DYSTROPHY 3; PRIORITY JOURNAL; RNA SPLICING; SCHOOL CHILD; SPECULAR MICROSCOPE; SPECULAR MICROSCOPY; SRI LANKAN; VESICULAR RASH; YOUNG ADULT; CONGENITAL CORNEA DYSTROPHY; GENE DELETION; GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE; STOP CODON;

ADOLESCENT; ADULT; CHILD; CODON, NONSENSE; CORNEAL DYSTROPHIES, HEREDITARY; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; HOMEODOMAIN PROTEINS; HUMANS; MALE; PEDIGREE; PHENOTYPE; RNA SPLICE SITES; SEQUENCE DELETION; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 84919651066     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/ahg.12090     Document Type: Article

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