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Waardenburg PJ . A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum Genet 1951; 3: 195–253.
Tassabehji M, Read AP, Newton VE, Harris R, alling R, Gruss P et al. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 1992; 355: 635–636.
Ohno N, Kiyosawa M, Mori H, Wang WF, Takase H, Mochizuki M . Clinical findings in Japanese patients with Waardenburg syndrome type 2. Jpn J Ophthalmol 2003; 47: 77–84.
Watanabe A, Takeda K, Ploplis B, Tachibana M . Epistatic relationship between Waardenburg syndrome genes MITF and PAX3. Nat Genet 1998; 18: 283–286.
Fortin AS, Underhill DA, Gris P . Reciprocal effect of Waardenburg syndrome mutations on DNA binding by the Pax-3 paired domain and homeodomain. Hum Mol Genet 1997; 6: 1781–1790.
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The authors have no proprietary interests. This study was supported by Grants-in-Aid 15591883 from Scientific Research, Japan
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Kozawa, M., Kondo, H., Tahira, T. et al. Novel mutation in PAX3 gene in Waardenburg syndrome accompanied by unilateral macular degeneration. Eye 23, 1619–1621 (2009). https://doi.org/10.1038/eye.2008.256
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DOI: https://doi.org/10.1038/eye.2008.256
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