Potential novel mechanism for Axenfeld-Rieger syndrome: Deletion of a distant region containing regulatory elements of PITX2

Investigative Ophthalmology and Visual Science

Volumn 52, Issue 3, 2011, Pages 1450-1459

  Volkmann, Bethany A ^a   Zinkevich, Natalya S ^a   Mustonen, Aki ^b   Schilter, Kala F ^a   Bosenko, Dmitry V ^a   Reis, Linda M ^a   Broeckel, Ulrich ^a   Link, Brian A ^a   Semina, Elena V ^a  

^a MEDICAL COLLEGE OF WISCONSIN   (United States)

^b OULU UNIVERSITY HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; AXENFELD RIEGER SYNDROME; BRAIN DEVELOPMENT; CLINICAL ARTICLE; CONTROLLED STUDY; CRANIOFACIAL DEVELOPMENT; EMBRYO; ENHANCER REGION; EYE DEVELOPMENT; GENE; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENE REGULATORY NETWORK; GENE SEQUENCE; HUMAN; IN SITU HYBRIDIZATION; NONHUMAN; PITX2 GENE; PRIORITY JOURNAL; SYNDROME; TRANSGENE; ZEBRA FISH;

ANIMALS; ANIMALS, GENETICALLY MODIFIED; ANTERIOR EYE SEGMENT; EYE ABNORMALITIES; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; HOMEODOMAIN PROTEINS; HUMANS; IN SITU HYBRIDIZATION; INFANT; MALE; MUTATION; PLASMIDS; REGULATORY ELEMENTS, TRANSCRIPTIONAL; SEQUENCE DELETION; TRANSCRIPTION FACTORS; ZEBRAFISH;

EID: 79955934874     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.10-6060     Document Type: Article

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