Article
PAX6 mutations may be associated with high myopia.
Ophthalmic genetics - 1 Sept 2007
Hewitt Alex W, Kearns Lisa S, Jamieson Robyn V, Williamson Kathy A, van Heyningen Veronica, Mackey David A
Abstract excerpt
PAX6 is a key regulator of eye development and there are many well recognized ophthalmic sequelae of mutations at this locus. The 14 exon PAX6 gene is well conserved across species and phyla. Coding region mutations manifest in a variety of phenotypes. Predicted premature protein truncations are generally associated with classical aniridia. Missense mutations are often found in cases with variant phenotypes such...
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