The wing 2 region of the FOXC1 forkhead domain is necessary for normal DNA-binding and transactivation functions.


PURPOSE To determine the biochemical defects that underlie Axenfeld-Rieger malformations, to determine a functional role for wing 2 in FOXC1, and to understand how mutations in this region disrupt FOXC1 function. METHODS Sequencing DNA from patients with Axenfeld-Rieger malformation resulted in the identification of two novel missense mutations (G165R and… (More)


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