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Autor:
Dan Gill, Yvonne M. Buys, Elise Heon, Mike A. Walter, Megan Priston, Kathy Kozlowski, Ken Letwin, Alex V. Levin
Publikováno v:
Human Molecular Genetics. 10:1631-1638
The specific role of PITX2 in the pathogenesis of anterior segment dysgenesis has yet to be clearly defined. We provide here new insight into PITX2 pathogenesis through mutational and functional analyses. Three PITX2 mutations were found in a screen