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Clinical and genetic differences in total colonic aganglionosis in Hirschsprungs disease
Journal of Pediatric Surgery, 10/26/09
Moore SW et al. – Total colonic aganglionosis differs clinically from other HSCR phenotypes and may lead to misdiagnosis. Potential disease–related RET gene mutations include exon 17–21 genetic variations that suggest the possibility of disrupted downstream signaling pathways from vital gene recruitment sites as possible TCA contributing factors.
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