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Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome

1 Jan 2017

Abstract excerpt

PURPOSE: To describe a Chinese family with Axenfeld-Rieger syndrome (ARS) and report our novel genetic findings. METHODS: Nine members of the same family underwent complete ophthalmologic examinations and genetic analysis. Genomic DNA was isolated from veinal blood and amplifed using PCR; the products of PCR were sequenced and compared with FOXC1 and PITX2 genes, from which the mutations were found. RESULTS:...

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PMID: 28695001
DOI: 10.1155/2017/5078079

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