VSX2 in microphthalmia: A novel splice site mutation producing a severe microphthalmia phenotype

British Journal of Ophthalmology

Volumn 94, Issue 3, 2010, Pages 386-388

  Burkitt Wright, Emma M M ^a,b   Perveen, Rahat ^a,b   Bowers, Naomi ^c   Ramsden, Simon ^c   McCann, Emma ^d   O'Driscoll, Mary ^a,b   Lloyd, I Chris ^a,e   Clayton Smith, Jill ^a,b   Black, Graeme C M ^a,b  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

^c ST MARY S HOSPITAL   (United Kingdom)

^d BETSI CADWALADR UNIVERSITY HEALTH BOARD   (United Kingdom)

^e MANCHESTER ROYAL EYE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

B SCAN; CALCIFICATION; CASE REPORT; CHILD; EXON; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INTRAOCULAR PRESSURE; INTRON; IRIS; IRIS COLOBOMA; KARYOTYPE 46,XX; LETTER; LEUKOKORIA; LYMPHOCYTE; MICROPHTHALMIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OPTIC NERVE; PARENT; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA DETACHMENT; SINGLE STRAND CONFORMATION POLYMORPHISM; VASCULARIZATION; VISUAL IMPAIRMENT; VSX2 GENE;

CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; MICROPHTHALMOS; MUTATION; PHENOTYPE; RNA SPLICE SITES; TRANSCRIPTION FACTORS;

EID: 77949515187     PISSN: 00071161     EISSN: 14682079     Source Type: Journal    
DOI: 10.1136/bjo.2009.159996     Document Type: Letter

References (6)

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