Double heterozygous mutations of MITF and PAX3 result in Waardenburg Syndrome with increased penetrance in pigmentary defects

Yang T, Li X, Huang Q, Li L, Chai Y, Sun L, Wang X, Zhu Y, Wang Z, Huang Z, Li Y, Wu H. Double heterozygous mutations of MITF and PAX3 result in Waardenburg Syndrome with increased penetrance in pigmentary defects. Clin Genet. 2012 Feb 9. doi: 10.1111/j.1399-0004.2012.01853.x. [Epub ahead of print]

PubMed ID: 
22320238