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A Large Novel Deletion Downstream of PAX6 Gene in a Chinese Family with Ocular Coloboma

11 Dec 2013

Abstract excerpt

PURPOSE: The paired box gene 6 (PAX6) is an essential transcription factor for eye formation. Genetic alterations in PAX6 can lead to various ocular malformations including aniridia. The purpose of this study was to identify genetic defects as the underlying cause of familial ocular coloboma in a large Chinese family. METHODS: After linkage analysis was carried out in this family, all exons of PAX6 in the proband...

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PMID: 24349436
DOI: 10.1371/journal.pone.0083073

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