Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma

Human Mutation

Volumn 29, Issue 11, 2008, Pages

  Wyatt, Alexander ^a   Bakrania, Preeti ^a   Bunyan, David J ^b   Osborne, Robert J ^a   Crolla, John A ^b   Salt, Alison ^c,d   Ayuso, Carmen ^e   Newbury Ecob, Ruth ^f,g   Abou Rayyah, Y ^c   Collin, J Richard O ^c   Robinson, David ^b   Ragge, Nicola ^a,c,h,i  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^c MOORFIELDS EYE HOSPITAL   (United Kingdom)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^e INSTITUTO DE SALUD CARLOS III   (Spain)

^f ROYAL UNITED HOSPITAL   (United Kingdom)

^g UNIVERSITY HOSPITALS BRISTOL NHS FOUNDATION TRUST   (United Kingdom)

^h BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

ⁱ UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Anophthalmia; Coloboma; Microphthalmia; OTX2 gene

Indexed keywords

TRANSCRIPTION FACTOR OTX2;

ANOPHTHALMIA; ARTICLE; CHROMOSOME 14Q; COLOBOMA; CONTROLLED STUDY; FEMALE; GENE DELETION; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MICROPHTHALMIA; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL;

ADOLESCENT; ANOPHTHALMOS; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 14; COLOBOMA; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENE DELETION; HETEROZYGOTE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; MICROPHTHALMOS; OTX TRANSCRIPTION FACTORS; PEDIGREE; PHENOTYPE;

EID: 55549118950     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20869     Document Type: Article

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