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={Kathy Kozlowski and Michael A Walter},
  journal={Human molecular genetics},
  year={2000},
  volume={9 14},
  pages={2131-9}
}
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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