Hirschsprung's disease as a neurochristopathy.
Recent molecular-genetic and histochemical studies of intestinal aganglionosis have confirmed the initial classification established by Bolande, who considered Hirschsprung's disease (HD) a neurocristopathy. This paper is a critical review of the results of molecular-genetic studies carried out from 1992 to date. In particular, the author focuses on the possible clinical impact of the identification of RET as a causative gene for HD.
Martucciello
G
G
Department of Pediatric Surgery, Istituto Giannina Gaslini, Genova, Italy.
D029721:Drosophila Proteins; D015870:Gene Expression; D006627:Hirschsprung Disease / Q000145:classification / Q000235:genetics*; D006801:Humans; D009154:Mutation; D009432:Neural Crest; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret; D011519:Proto-Oncogenes; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*
D029721:Drosophila Proteins; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila