Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy

Human Genetics

Volumn 128, Issue 1, 2010, Pages 51-60

  Iseri, Sibel Ugur ^a   Wyatt, Alexander W ^a   Nürnberg, Gudrun ^b,c   Kluck, Christian ^b   Nürnberg, Peter ^b,c   Holder, Graham E ^d   Blair, Ed ^e   Salt, Alison ^d,f   Ragge, Nicola K ^a,d,g  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF COLOGNE   (Germany)

^c UNIVERSITY OF COLOGNE   (Germany)

^d MOORFIELDS EYE HOSPITAL   (United Kingdom)

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

^f GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^g BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

HOMEODOMAIN PROTEIN; UNCLASSIFIED DRUG; VISUAL SYSTEM HOMEOBOX 2 PROTEIN; CHX10 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ANOPHTHALMIA; ARTICLE; CLINICAL ARTICLE; FEMALE; GENE MAPPING; GENE MUTATION; GENOTYPE; HOMOZYGOSITY; HUMAN; MICROPHTHALMIA; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL; RECESSIVE INHERITANCE; RETINA DYSTROPHY; SINGLE NUCLEOTIDE POLYMORPHISM; ADULT; CASE REPORT; CHILD; CONSANGUINITY; DOMINANT GENE; GENETICS; HOMOZYGOTE; MUTATION; RECESSIVE GENE; RETINA DEGENERATION;

ADULT; CHILD; CONSANGUINITY; GENES, DOMINANT; GENES, RECESSIVE; HOMEODOMAIN PROTEINS; HOMOZYGOTE; HUMANS; MICROPHTHALMOS; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RETINAL DEGENERATION; TRANSCRIPTION FACTORS;

EID: 77954007121     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-010-0823-6     Document Type: Article

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