Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3

European Journal of Human Genetics

Volumn 24, Issue 7, 2016, Pages 985-991

  Liskova, Petra ^a,b   Evans, Cerys J ^c   Davidson, Alice E ^c   Zaliova, Marketa ^d   Dudakova, Lubica ^a   Trkova, Marie ^e   Stranecky, Viktor ^a   Carnt, Nicole ^c,f   Plagnol, Vincent ^g   Vincent, Andrea L ^h,i   Tuft, Stephen J ^f   Hardcastle, Alison J ^c  

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

^b CHARLES UNIVERSITY   (Czech Republic)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^e Gennet   (Czech Republic)

^f MOORFIELDS EYE HOSPITAL   (United Kingdom)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

^h UNIVERSITY OF AUCKLAND   (New Zealand)

ⁱ GREEN LANE HOSPITAL   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; TRANSCRIPTION FACTOR ZEB1; ZEB1 PROTEIN, HUMAN;

3' UNTRANSLATED REGION; ADULT; AGED; ARTICLE; CHILD; CHROMOSOME 10; CHROMOSOME 10P; CLINICAL ARTICLE; COPY NUMBER VARIATION; CORNEA DYSTROPHY; EXOME; FEMALE; GENE DELETION; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCUS; GENE SEQUENCE; HAPLOINSUFFICIENCY; HAPLOTYPE; HETEROZYGOSITY; HETEROZYGOUS DELETION; HOMOZYGOSITY; HUMAN; INTRON; MALE; MIDDLE AGED; POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY TYPE 3; PRIORITY JOURNAL; PROSPECTIVE STUDY; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; VERY ELDERLY; WHOLE EXOME SEQUENCING; YOUNG ADULT; ADOLESCENT; CONGENITAL CORNEA DYSTROPHY; GENETICS; HETEROZYGOTE; PATHOLOGY; PEDIGREE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; CORNEAL DYSTROPHIES, HEREDITARY; DNA COPY NUMBER VARIATIONS; FEMALE; GENE DELETION; HAPLOINSUFFICIENCY; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; ZINC FINGER E-BOX-BINDING HOMEOBOX 1;

EID: 84945562009     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.232     Document Type: Article

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