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References

These sources were used to develop the Genetics Home Reference gene summary on the PAX3 gene.

Anderson J, Gordon A, Pritchard-Jones K, Shipley J. Genes, chromosomes, and rhabdomyosarcoma. Genes Chromosomes Cancer. 1999 Dec;26(4):275-85. Review. PubMed citation
Anderson J, Ramsay A, Gould S, Pritchard-Jones K. PAX3-FKHR induces morphological change and enhances cellular proliferation and invasion in rhabdomyosarcoma. Am J Pathol. 2001 Sep;159(3):1089-96. PubMed citation
Birrane G, Soni A, Ladias JA. Structural basis for DNA recognition by the human PAX3 homeodomain. Biochemistry. 2009 Feb 17;48(6):1148-55. doi: 10.1021/bi802052y. PubMed citation
Bondurand N, Pingault V, Goerich DE, Lemort N, Sock E, Le Caignec C, Wegner M, Goossens M. Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome. Hum Mol Genet. 2000 Aug 12;9(13):1907-17. PubMed citation
Entrez Gene
OMIM: PAIRED BOX GENE 3
OMIM: RHABDOMYOSARCOMA 2
Potterf SB, Furumura M, Dunn KJ, Arnheiter H, Pavan WJ. Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3. Hum Genet. 2000 Jul;107(1):1-6. PubMed citation
Read AP. Waardenburg syndrome. Adv Otorhinolaryngol. 2000;56:32-8. Review. PubMed citation
Sommer A, Bartholomew DW. Craniofacial-deafness-hand syndrome revisited. Am J Med Genet A. 2003 Nov 15;123A(1):91-4. PubMed citation
Wang Q, Fang WH, Krupinski J, Kumar S, Slevin M, Kumar P. Pax genes in embryogenesis and oncogenesis. J Cell Mol Med. 2008 Dec;12(6A):2281-94. doi: 10.1111/j.1582-4934.2008.00427.x. Epub 2008 Jul 4. Review. PubMed citation
Wollnik B, Tukel T, Uyguner O, Ghanbari A, Kayserili H, Emiroglu M, Yuksel-Apak M. Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. Am J Med Genet A. 2003 Sep 15;122A(1):42-5. PubMed citation


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