Article
Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severity.
Human mutation - 1 Oct 2011
Kelberman Daniel, Islam Lily, Holder Susan E, Jacques Thomas S, Calvas Patrick, Hennekam Raoul C, Nischal Ken K, Sowden Jane C
Abstract excerpt
Disease-causing mutations affecting either one of the transcription factor genes, PITX2 or FOXC1, have been previously identified in patients with Axenfeld-Rieger syndrome (AR). We identified a family who segregate novel mutations in both PITX2 (p.Ser233Leu) and FOXC1 (c.609delC). The most severely affected individual, who presented with an atypical phenotype of corneal opacification, lens extrusion, persistent...
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