Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome.
@article{Kulak1998MutationIT, title={Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome.}, author={S. Kulak and K. Kozlowski and E. Semina and W. G. Pearce and M. Walter}, journal={Human molecular genetics}, year={1998}, volume={7 7}, pages={ 1113-7 } }
Axenfeld-Rieger syndrome (ARS) and iridogoniodysgenesis syndrome (IGDS) are clinically related autosomal dominant disorders which affect the anterior segment of the eye as well as non-ocular structures. ARS patients present with iris hypoplasia, a prominent Schwalbe line, adhesions between the iris stroma and the iridocorneal angle and increased intraocular pressure. IGDS is characterized by iris hypoplasia, goniodysgenesis and increased intraocular pressure. Each syndrome also presents with… CONTINUE READING
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References
SHOWING 1-10 OF 42 REFERENCES
Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct.
- Biology, Medicine
- Ophthalmology
- 1996
- 33
Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25.
- Biology, Medicine
- American journal of human genetics
- 1996
- 71
Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly.
- Biology, Medicine
- American journal of human genetics
- 1997
- 34
- PDF
Mutation of the PAX6 gene in patients with autosomal dominant keratitis.
- Biology, Medicine
- American journal of human genetics
- 1995
- 136
Axenfeld-Rieger syndrome. A spectrum of developmental disorders.
- Medicine
- Survey of ophthalmology
- 1985
- 213
Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25).
- Biology, Medicine
- Human molecular genetics
- 1995
- 60
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome
- Biology, Medicine
- Nature Genetics
- 1996
- 850
Congenital glaucoma due to dominant goniodysgenesis. A new concept of the heredity of glaucoma.
- Biology, Medicine
- American journal of human genetics
- 1983
- 18
Autosomal dominant iridogoniodysgenesis: genetic features.
- Medicine
- Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
- 1983
- 6