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Cell Mol Life Sci. 2000 Oct;57(11):1652-66.

Rieger syndrome: a clinical, molecular, and biochemical analysis.

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Department of Biological Sciences, The University of Tulsa, Oklahoma 74104-3189, USA.


Rieger syndrome (RIEG 1; MIM 180500) is an autosomal dominant disorder of morphogenesis. It is a phenotypically heterogeneous disorder characterized by malformations of the eyes, teeth, and umbilicus. RIEG belongs to the Axenfeld-Rieger group of anomalies, which includes Axenfeld anomaly and Rieger anomaly (or Rieger eye malformation), which display ocular features only. Recently, mutations in the homeodomain transcription factor, PITX2, have been shown to be associated with Rieger syndrome. This review discusses the clinical manifestations of Rieger syndrome and how they correlate with the current molecular and biochemical studies on this human disorder.

[Indexed for MEDLINE]

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