Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome
@article{Semina1996CloningAC, title={Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome}, author={E. Semina and R. Reiter and N. Leysens and W. Alward and K. Small and N. Datson and J. Siegel-Bartelt and D. Bierke-Nelson and P. Bitoun and B. Zabel and J. Carey and J. Murray}, journal={Nature Genetics}, year={1996}, volume={14}, pages={392-399} }
Rieger syndrome (REG) is an autosomal–dominant human disorder that includes anomalies of the anterior chamber of the eye, dental hypoplasia and a protuberant umbilicus. We report the human cDNA and genomic characterization of a new homeobox gene, RIEG, causing this disorder. Six mutations in RIEG were found in individuals with the disorder. The cDNA sequence of Rieg, the murine homologue of RIEG, has also been isolated and shows strong homology with the human sequence. In mouse embryos Rieg… CONTINUE READING
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Observational Clinical Trial
This study will investigate congenital or developmental eye abnormalities that affect the
iris, cornea and lens, and are usually accompanied by elevated pressure within the eye. These… Expand
Conditions | Aniridia, Eye Abnormality, Ocular Hypertension, (+1 more) |
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