Article

Structural brain abnormalities in 12 persons with aniridia

2017-09-01

Abstract excerpt

<h4>Background: </h4> Aniridia is a disorder predominately caused by heterozygous loss-of-function mutations of the PAX6 gene, which is a transcriptional regulator necessary for normal eye and brain development. The ocular abnormalities of aniridia have been well characterized, but mounting evidence has implicated brain-related phenotypes as a prominent feature of this disorder as well. Investigations using neu...

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Literature Corpus work: fc49a19d-26ee-5378-b57d-4b4c3d5ed0e3
DOI: 10.12688/f1000research.11063.2

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