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A new PHOX2B polymorphism is associated with Hirschsprung’s disease

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Unravelling the complexities of Hirschsprung’s disease (HSCR) is a step closer, with the first association study of PHOX2B as a candidate gene in Chinese people. The disease is polygenic so gene interactions may occur—but first, the susceptibility genes must be identified.

An A→G1364 substitution in intron 2—one of three …

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