Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: Dose effect of the PAX6 gene product?

American Journal of Medical Genetics

Volumn 73, Issue 3, 1997, Pages 267-271

  Aalfs, C M ^a   Fantes, J A ^b   Wenniger Prick, L J J M ^a   Sluijter, S ^a   Hennekam, R C M ^a   Van Heyningen, V ^b   Hoovers, J M N ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b WESTERN GENERAL HOSPITAL   (United Kingdom)

Author keywords

Developmental delay; Eye abnormalities; Gene dosage effect; PAX6 gene; Trisomy 11p; WT1 gene

Indexed keywords

GENE PRODUCT;

ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME BAND; DEVELOPMENTAL DISORDER; EYE MALFORMATION; FACE MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DOSAGE; HUMAN; INFANT; PRIORITY JOURNAL; TRISOMY; TRISOMY 11P; UROGENITAL TRACT MALFORMATION;

CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 11; DEVELOPMENTAL DISABILITIES; DNA-BINDING PROTEINS; EYE ABNORMALITIES; EYE PROTEINS; FACE; FEMALE; GENE DOSAGE; HOMEODOMAIN PROTEINS; HUMANS; INFANT; KARYOTYPING; MULTIGENE FAMILY; PAIRED BOX TRANSCRIPTION FACTORS; REPRESSOR PROTEINS;

EID: 0030671068     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19971219)73:3<267::AID-AJMG7>3.0.CO;2-P     Document Type: Article

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