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The Non-Enteric Phenotypes of Hirschsprung's Disease in Humans and the Spotting Lethal Rat

Dobes, Ma Jacqueline


Hirschsprung's disease (HSCR) is a condition that was once labelled as purely enteric. The problem arises from the lack of nerve cells in the distal portion of the gastrointestinal tract and this non-functioning, aganglionic portion of the gut causes bowel obstruction. With the discovery of increasing numbers of associated genes, phenotypes and syndromes, it is becoming better known as a multisystem disorder. There are 10 known genes causing HSCR, with the RET proto-oncogene being the major one...[Show more]

CollectionsOpen Access Theses
Date published: 2016
Type: Thesis (MPhil)
DOI: 10.25911/5d514b198c900


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