Article
PITX2 gain-of-function in Rieger syndrome eye model.
The American journal of pathology - 1 Nov 2004
Holmberg Johan, Liu Chia-Yang, Hjalt Tord A
Abstract excerpt
The human autosomal-dominant disorder Axenfeld-Rieger syndrome presents with defects in development of the eyes, teeth, and umbilicus. The eye manifests with iris ruptures, irido-corneal adhesions, cloudy corneas, and glaucoma. Transcription factors such as PITX2 and FOXC1 have been found to carry point mutations, causing the disorder. However, for approximately 40% of the cases, the pathogenesis is unknown. It...
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