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The combination of Hirschsprung's disease and achalasia
Journal of Pediatric SurgeryVol. 40Issue 2E28–E30Published in issue: February, 2005- Sven Kohler
- Guido Fitze
- Stuart Hosie
- Lukas Wessel
- Stephan Holland-Cunz
Cited in Scopus: 3The unusual combination of Hirschsprung's disease and Achalasia in one case treated by standard procedures led to the discussion about RET germ-line mutations and consequently to the speculation about higher risk for multiple endocrine neoplasia syndrome type 2–related tumors. Although a mutation could be excluded by sequence analysis in this case, the correlation of these specific diseases affords additive investigations to make sure that no further prophylactic procedures were necessary.
