Axenfeld-Rieger Anomaly is an autosomal dominant disorder caused by mutations of the FOXC1-Gene. Clinical symptoms include eye abnormalities, such as glaucoma and iridogoniodysgenesis, and skull abnormalities.
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| 1. |
Gould DB et al. (1997) Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25.
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| 2. |
None (2007) Molecular and developmental mechanisms of anterior segment dysgenesis.
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| 3. |
Strungaru MH et al. (2007) Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations.
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| 4. |
Grosso S et al. (2002) Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome?
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| 5. |
Gould DB et al. (2002) Anterior segment dysgenesis and the developmental glaucomas are complex traits.
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| 6. |
Baruch AC et al. (2001) Axenfeld-Rieger anomaly, hypertelorism, clinodactyly, and cardiac anomalies in sibs with an unbalanced translocation der(6)t(6;8).
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| 7. |
None (2000) Axenfeld-Rieger syndrome in the age of molecular genetics.
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| 8. |
Cunningham ET et al. (1998) Familial Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss: a possible new genetic syndrome.
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| 9. |
Aldinger KA et al. (2009) FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.
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| 10. |
Chanda B et al. (2008) A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.
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| 11. |
Weisschuh N et al. (2008) A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly.
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| 12. |
Ito YA et al. (2007) Analyses of a novel L130F missense mutation in FOXC1.
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| 13. |
Honkanen RA et al. (2003) A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene.
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| 14. |
Lehmann OJ et al. (2002) Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions.
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| 15. |
Nishimura DY et al. (2001) A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye.
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| 16. |
Mirzayans F et al. (2000) Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25.
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| 17. |
Mears AJ et al. (1998) Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.
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| 18. |
Nishimura DY et al. (1998) The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.
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| 19. |
Davies AF et al. (1999) An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2alpha that affects anterior eye chamber development.
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| 20. |
OMIM.ORG article Omim 602482
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