A new phenotype of recessively inherited foveal hypoplasia and anterior segment dysgenesis maps to a locus on chromosome 16q23.2-24.2

Journal of Medical Genetics

Volumn 41, Issue 10, 2004, Pages 772-777

  Pal, B ^a   Mohamed, M D ^a   Keen, T J ^a,d   Williams, G A ^a   Bradbury, J A ^b   Sheridan, E ^c   Inglehearn, C F ^a,c  

^a UNIVERSITY OF LEEDS   (United Kingdom)

^b BRADFORD ROYAL INFIRMARY   (United Kingdom)

^c ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^d UNIVERSITY OF BERGEN   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXC2; UNCLASSIFIED DRUG;

ADOLESCENT; ANTERIOR EYE SEGMENT; ANTERIOR SEGMENT DYSGENESIS; ARTICLE; CHILD; CHROMOSOME 16Q; CHROMOSOME MAP; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; EXON; EYE DEVELOPMENT; EYE MALFORMATION; FEMALE; FOVEAL HYPOPLASIA; GENE LOCUS; GENE SEQUENCE; GENETIC LINKAGE; GENETIC MARKER; GENETIC RECOMBINATION; GENOTYPE; HUMAN; MALE; MORPHOGENESIS; NYSTAGMUS; PHENOTYPE; PRIORITY JOURNAL; RECESSIVE INHERITANCE; RETINA FOVEA; VISUAL IMPAIRMENT;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 16; CONSANGUINITY; EYE ABNORMALITIES; FEMALE; GENES, RECESSIVE; HAPLOTYPES; HUMANS; LOD SCORE; MALE; PEDIGREE; PHENOTYPE;

EID: 6344240883     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.020040     Document Type: Article

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