A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome) (Q28278792)

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A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)
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    A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome) (English)
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    J Osinga
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    G Tan-Sindhunata
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    E J Kamsteeg
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    R P Stulp
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    C van Ravenswaaij-Arts
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    D Majoor-Krakauer
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    M Angrist
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    A Chakravarti
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    C Meijers
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    C H Buys
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    April 1996
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    12
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    445-7
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    4
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