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Advances in understanding the association between Down syndrome and Hirschsprung disease (DS-HSCR).
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QTL analysis identifies a modifier locus of aganglionosis in the rat model of Hirschsprung disease carrying Ednrb(sl) mutations.
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Genetic background strongly modifies the severity of symptoms of Hirschsprung disease, but not hearing loss in rats carrying Ednrb(sl) mutations.
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Novel mutations of endothelin-B receptor gene in Pakistani patients with Waardenburg syndrome.
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Novel mutation of Endothelin-B receptor gene in Waardenburg-Hirschsprung disease.
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