Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients

Journal of Glaucoma

Volumn 10, Issue 6, 2001, Pages 477-482

  Kawase, C ^a   Kawase, K ^a   Taniguchi, T ^a   Sugiyama, K ^a   Yamamoto, T ^a   Kitazawa, Y ^a   Alward, W L M ^a   Stone, E M ^a   Nishimura, D Y ^a   Sheffield, V C ^a  

^a GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Axenfeld Rieger syndrome; FKHL7; FOXC1; Japanese

Indexed keywords

ANTERIOR EYE SEGMENT; ARTICLE; AXENFELD RIEGER SYNDROME; CLINICAL ARTICLE; DEVELOPMENTAL DISORDER; DNA DETERMINATION; DNA SEQUENCE; FOXC1 GENE; GENE; GENE MUTATION; GENETIC SCREENING; GLAUCOMA; HUMAN; INFORMED CONSENT; INTRAOCULAR HYPERTENSION; IRIS DISEASE; JAPAN; PEDIGREE; PRIORITY JOURNAL; RIEGER SYNDROME; SINGLE STRAND CONFORMATION POLYMORPHISM; SYNDROME;

EID: 0035665325     PISSN: 10570829     EISSN: None     Source Type: Journal    
DOI: 10.1097/00061198-200112000-00007     Document Type: Article

References (12)

1. Axenfeld-Rieger syndrome in the age of molecular genetics
2. Axenfeld-Rieger syndrome: A theory of mechanism and distinctions from the iridocorneal endothelial syndrome
3. Axenfeld-Rieger syndrome
4. Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4
5. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25
6. A second locus for Rieger syndrome maps to chromosome 13q14
7. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome
8. Dysgenesis mesodermalis corneae et iridis
9. Origins of avian ocular and periocular tissues
10. Mutations of the forkhead/winged-helix gene, FKH7, in patients with AxenfeldRieger anomaly
11. Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25
12. A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye