Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators

Human Genetics

Volumn 126, Issue 6, 2009, Pages 791-803

  Gestri, Gaia ^a   Osborne, Robert J ^b,k   Wyatt, Alexander W ^b   Gerrelli, Dianne ^c   Gribble, Susan ^d   Stewart, Helen ^e   Fryer, Alan ^f   Bunyan, David J ^g   Prescott, Katrina ⁱ   Collin, J Richard O ^j   Fitzgerald, Tomas ^d   Robinson, David ^g,h   Carter, Nigel P ^d   Wilson, Stephen W ^a   Ragge, Nicola K ^b,j  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^e OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^f ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^g SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^h UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

ⁱ CHAPEL ALLERTON HOSPITAL   (United Kingdom)

^j MOORFIELDS EYE HOSPITAL   (United Kingdom)

^k Population Genetics Technologies   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR TFAP2A; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; ADULT; ARTICLE; CHILD; DEVELOPMENTAL DISORDER; EPITHELIUM; EXON; FEMALE; GENE DELETION; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; HETEROZYGOSITY; HUMAN; INFANT; LENS; MAJOR CLINICAL STUDY; MALE; MOUTH CAVITY; MUTATIONAL ANALYSIS; NONHUMAN; NOSE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA DISEASE; RETINA NEUROEPITHELIAL LAYER; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; ZEBRA FISH;

ADULT; ANIMALS; BRANCHIO-OTO-RENAL SYNDROME; CHILD, PRESCHOOL; EYE; EYE ABNORMALITIES; FEMALE; GENE DELETION; HUMANS; INFANT; MALE; MIDDLE AGED; MORPHOGENESIS; MUTATION; RETINA; TRANSCRIPTION FACTOR AP-2; ZEBRAFISH; ZEBRAFISH PROTEINS;

DANIO RERIO;

EID: 71349083044     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-009-0730-x     Document Type: Article

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