Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25

@article{Mirzayans2000AxenfeldRiegerSR,
  title={Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25},
  author={Farideh Mirzayans and Douglas B Gould and Elise H{\'e}on and Gail D. Billingsley and Jason C Cheung and Alan J. Mears and Michael A Walter},
  journal={European Journal of Human Genetics},
  year={2000},
  volume={8},
  pages={71-74}
}
Mutations in the forkhead-like 7 (FKHL7) gene have been recently shown to cause juvenile glaucoma and anterior segment anomalies. We report on a three-generation family with Axenfeld-Rieger syndrome (ARS), harboring an alteration in the FKHL7 gene. Genetic linkage analyses excluded the ARS phenotype from chromosomes 4q25 and 13q14, the locations of the PITX2 and RIEG2 loci, respectively. Evidence of linkage was observed with markers at 6p25, near the FKHL7 gene. Direct sequencing of FKHL7… CONTINUE READING
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