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