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. 2020 Jun 5;22(10):1623–1632. doi: 10.1038/s41436-020-0854-x

Fig. 4. Novel variants in FOXC1 Wing 2 domain, PITX2, and a PAX6 deletion identified on genome sequencing (GS).

Fig. 4

(a) FOXC1 gene, with key domains and regions of the major forkhead domain, with wing 2 (W2) region highlighted. b Alignment demonstrates the highly conserved residues of this domain across the FOXC1 paralog FOXC2, and the phylogenetic tree. Previously reported pathogenic variants in the wing 2 domain are labeled, and the Arg173 highlighted in pink. c PITX2 gene and three novel variants found in this study. d PAX6 deletion is also demonstrated, with exon numbering in the diagram.