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Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients.
Kawase C, Kawase K, Taniguchi T, Sugiyama K, Yamamoto T, Kitazawa Y et al.
J GlaucomaDec 200125 citationsCase Series
This study found four FOXC1 mutations, two novel, in four of six Japanese Axenfeld-Rieger syndrome families, confirming this gene's role in anterior segment maldevelopment and variable glaucoma severity.