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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease axenfeld-rieger syndrome
Comorbidity C0017601|glaucoma
Sentences 3
PubMedID- 20827438 axenfeld-rieger syndrome associated with congenital glaucoma and cytochrome p4501b1 gene mutations.
PubMedID- 25136237 We report an unusual case of axenfeld-rieger syndrome with secondary glaucoma managed with ologen((r)) implant.
PubMedID- 24914578 A novel mutation of foxc1 (r127l) in an axenfeld-rieger syndrome family with glaucoma and multiple congenital heart diseases.

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