Article
Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation.
American journal of medical genetics. Part A - 1 Jan 2013
Gripp Karen W, Hopkins Elizabeth, Jenny Kim, Thacker Deepika, Salvin Jonathan
Abstract excerpt
Axenfeld-Rieger syndrome (ARS) is an autosomal dominant condition characterized by ophthalmologic anterior segment abnormalities and extraocular findings including dental anomalies and redundant periumbilical skin. Intragenic mutations in the homeobox gene PITX2 or the transcription factor encoding FOXC1 were identified, and genomic rearrangements encompassing either gene also cause ARS. A molecular etiology is...
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