Last updated on February 2018

Genetic Mosaicism in Hirschsprung's Disease


Brief description of study

Hirschsprung's disease is a complex genetic disorder. The etiology of this disease is not completely understood. It is characterized by the absence of ganglia (nerve cells) in de distal colon. This impairs bowel relaxation which can lead to bowel disfunction, toxic megacolon, ileus and enterocolitis. So far, several genes have been identified that play a role in Hirschsprung's disease. The precise mechanisms however, remain unclear. This study wants to identify new mutations and hopefully clarify more about the etiology of the disease.

Clinical Study Identifier: NCT01927809

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Ivo Blaauw, MD

UMC St Radboud
Nijmegen, Netherlands
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Katherine MacKenzie

Erasmus Medical Center - Sophia
Rotterdam, Netherlands
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