A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

Robert M.W. Hofstra, Jan Osinga, Gita Tan-Sindhunata, Ying Wu, Erik J. Kamsteeg, Rein P. Stulp, Conny Van Ravenswaaij-Arts, Daniëlle Majoor-Krakauer, Misha Angrist, Aravinda Chakravarti, Carel Meijers, Charles H.C.M. Buys

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