Rieger syndrome is associated with PAX6 deletion

Acta Ophthalmologica Scandinavica

Volumn 79, Issue 2, 2001, Pages 201-203

  Riise, Ruth ^a   Storhaug, Kari ^b   Brøndum Nielsen, Karen ^c  

^a Central Hospital in Hedmark   (Norway)

^b UNIVERSITY OF OSLO   (Norway)

^c JOHN F KENNEDY INSTITUTE   (Denmark)

Author keywords

Anterior segment dysgenesis; Dental anomalies; Facial anomalies; Glaucoma; Iris atrophy; PAX6 deletion; Rieger anomaly; Rieger syndrome

Indexed keywords

HOMEODOMAIN PROTEIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHILD; CHROMOSOME 11; CHROMOSOME 13Q; CHROMOSOME 4Q; CLINICAL EXAMINATION; CLINICAL FEATURE; FACE MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; HOMEOBOX; HUMAN; IRIS DISEASE; JAW MALFORMATION; MANDIBLE; MAXILLA; MOLECULAR GENETICS; PRIORITY JOURNAL; RIEGER SYNDROME; SEQUENCE HOMOLOGY; SKELETON MALFORMATION; TOOTH MALFORMATION; UMBILICUS;

ABNORMALITIES, MULTIPLE; ANTERIOR EYE SEGMENT; CHILD; CHROMOSOMES, HUMAN, PAIR 6; EYE ABNORMALITIES; EYE PROTEINS; FACIAL BONES; FEMALE; GENE DELETION; HOMEODOMAIN PROTEINS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; IRIS; PAIRED BOX TRANSCRIPTION FACTORS; REPRESSOR PROTEINS; TOOTH ABNORMALITIES; UMBILICUS;

EID: 0035088665     PISSN: 13953907     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0420.2001.079002201.x     Document Type: Article

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