Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders.

@article{Kozlowski2000VariationIR,
  title={Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders.},
  author={K. Kozlowski and M. Walter},
  journal={Human molecular genetics},
  year={2000},
  volume={9 14},
  pages={
          2131-9
        }
}
  • K. Kozlowski, M. Walter
  • Published 2000
  • Biology, Medicine
  • Human molecular genetics
    • The autosomal dominant disorders iris hypolasia (IH), iridogoniodysgenesis syndrome (IGDS) and Axenfeld-Rieger syndrome (ARS) are characterized by maldevelopment of the anterior segment of the eye associated with an increased risk of early-onset glaucoma. IH, IGDS and ARS are allelic disorders, as all three can result from mutations of the transcription factor PITX2. IH is the mildest of the three, whereas ARS exhibits the most severe ocular malformations. We hypothesize that varying amounts of… CONTINUE READING
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    References

    SHOWING 1-10 OF 47 REFERENCES
    Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome.
    • 117
    • PDF
    The Molecular Basis of Rieger Syndrome
    • 134
    • PDF
    Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct.
    • 33
    Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25
    • 114
    • PDF
    Function of Rieger syndrome gene in left–right asymmetry and craniofacial development
    • 479
    Histopathology and molecular basis of iridogoniodysgenesis syndrome.
    • 10
    Axenfeld-Rieger syndrome. A spectrum of developmental disorders.
    • 213
    Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene.
    • 126
    The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25
    • 422
    Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25).
    • 60