Digenic inheritance of mutations in FOXC1 and PITX2: Correlating transcription factor function and axenfeld-rieger disease severity

Human Mutation

Volumn 32, Issue 10, 2011, Pages 1144-1152

  Kelberman, Daniel ^a   Islam, Lily ^a,b   Holder, Susan E ^b,c   Jacques, Thomas S ^a,b   Calvas, Patrick ^d   Hennekam, Raoul C ^b,e   Nischal, Ken K ^a,b   Sowden, Jane C ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c EALING HOSPITAL NHS TRUST   (United Kingdom)

^d TOULOUSE UNIVERSITY HOSPITAL   (France)

^e UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Anterior segment dysgenesis; Axenfeld Rieger; Digenic inheritance; FOXC1; PITX2

Indexed keywords

LEUCINE; SERINE; TRANSCRIPTION FACTOR;

ANTERIOR EYE CHAMBER DISEASE; ARTICLE; AXENFELD RIEGER DISEASE; CASE REPORT; CHILD; CONTROLLED STUDY; CORNEA OPACITY; DISEASE SEVERITY; FEMALE; FOXC1 GENE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEGREGATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; IN VITRO STUDY; LENS DISEASE; LENS EXTRUSION; NUCLEOTIDE SEQUENCE; PERSISTENT HYPERPLASTIC PRIMARY VITREOUS; PHENOTYPIC VARIATION; PITX2 GENE; PRIORITY JOURNAL; PROMOTER REGION; RETINA DETACHMENT; TRANSCRIPTION INITIATION;

ADULT; ANTERIOR EYE SEGMENT; CHILD, PRESCHOOL; DNA-BINDING PROTEINS; EYE; EYE ABNORMALITIES; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; HEK293 CELLS; HOMEODOMAIN PROTEINS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; PHENOTYPE; SEVERITY OF ILLNESS INDEX; TRANSCRIPTION FACTORS; TRANSCRIPTIONAL ACTIVATION;

EID: 80052964674     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21550     Document Type: Article

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