A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly

European Journal of Human Genetics

Volumn 19, Issue 3, 2011, Pages 293-299

  Doucette, Lance ^a,b   Green, Jane ^a,b   Fernandez, Bridget ^a,b   Johnson, Gordon J ^a,b   Parfrey, Patrick ^a,b   Young, Terry Lynn ^a,b  

^a MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

^b MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

Author keywords

anterior segment dysgenesis; cataracts; FOXE3; microcornea; non stop mutation; Peters anomaly

Indexed keywords

AMINO ACID; COMPLEMENTARY DNA; LEUCINE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXE3; UNCLASSIFIED DRUG;

ADULT; AGED; ALLELE; ANTERIOR SEGMENT DYSGENESIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; DISEASE COURSE; EYE MALFORMATION; FAMILY; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; LENS; LYMPHOBLAST; MALE; MOLECULAR PATHOLOGY; NUCLEOTIDE SEQUENCE; PETERS ANOMALY; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; STOP CODON;

ADULT; AGED; ALLELES; ANTERIOR EYE SEGMENT; CATARACT; CHILD; CORNEAL OPACITY; EYE ABNORMALITIES; FEMALE; FOLLOW-UP STUDIES; FORKHEAD TRANSCRIPTION FACTORS; HAPLOINSUFFICIENCY; HUMANS; LENS, CRYSTALLINE; MALE; MIDDLE AGED; NEWFOUNDLAND AND LABRADOR; PHENOTYPE; POINT MUTATION; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 79951811386     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.210     Document Type: Article

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