| 1 | MITF, PAX3, SOX10, WS1, WS2A, WS2E, WS3, WS4C
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| Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.
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| Chen H, Jiang L, Xie Z, Mei L, He C, Hu Z, Xia K, Feng Y.
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| Biochem Biophys Res Commun 397(1):70-4. Epub 2010 May 15.PMID: 20478267 2010
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| 2 | MITF, PAX3, WS1, WS2A, WS3,
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| The value of MLPA in Waardenburg syndrome.
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| Milunsky JM, Maher TA, Ito M, Milunsky A.
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| Genet Test 11(2):179-82. 2007
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| 3 | WS3, WS1, PAX3
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| Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.
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| Wollnik B, Tukel T, Uyguner O, Ghanbari A, Kayserili H, Emiroglu M, Yuksel-Apak M.
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| Am J Med Genet A 122(1):42-5. 2003
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| 4 | PAX3, WS3
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| Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?
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| Tekin M, Bodurtha J, Nance W, Pandya A.
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| Clin Genet 60(4):301-4. 2001
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| 5 | WS1, WS2A, WS2B, WS3, WS4A, WS4B, WS4C
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| Waardenburg syndrome.
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| Read AP, et al.
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| J Med Genet 34 : 656-665. 1997
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| 6 | MITF, PAX3, WS1, WS2A, WS3
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| The mutational spectrum in Waardenburg syndrome.
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| Tassabehji M, et al.
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| Hum Mol Genet 4 : 2131-2137. 1995
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| 7 | WS3, PAX3
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| Homozygosity for Waardenburg syndrome.
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| Zlotogora J, et al.
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| Am J Hum Genet 56 : 1173-1178. 1995
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| 8 | WS1, WS3
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| Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35.
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| Pasteris NG, et al.
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| Hum Mol Genet 2 : 953-959. 1993
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| 9 | WS3
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| A mutation in the Waardenburg syndrome (WS-I) gene in a family with WS-III.
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| Milunsky A, et al.
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| Am J Hum Genet 51 : A222. 1992
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| 10 | WS3
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| A chromosome deletion 2q35-36 spanning loci HuP2 and COL4A3 results in Waardenburg syndrome, type III (Klein-Waardenburg syndrome).
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| Pasteris NG, et al.
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| Am J Hum Genet 51 : A224. 1992
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