A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease
โ Scribed by Griseri, Paola; Sancandi, Monica; Patrone, Giovanna; Bocciardi, Renata; Hofstra, Robert; Ravazzolo, Roberto; Devoto, Marcella; Romeo, Giovanni; Ceccherini, Isabella
- Book ID
- 110025014
- Publisher
- Nature Publishing Group
- Year
- 2000
- Tongue
- English
- Weight
- 158 KB
- Volume
- 8
- Category
- Article
- ISSN
- 1018-4813
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## Communicated by Martin Bobrow The RET proto-oncogene codes for a receptor tyrosine kinase thought to play a role in the development of neural crest and its derivatives. Mutations in the RET proto-oncogene have been found in patients with the multiple endocrine neoplasia type 2 syndromes (MEN 2)
## Hirschsprung disease (HSCR; McKusick 142623 ) or aganglionic megacolon is a frequent (1 in 5,000 live births) heritable disorder of the enteric nervous system. By haplotyping with a variety of microsatellite markers, by amplifying all 20 exons of the RET proto-oncogene and by applying a direct
Complex diseases are common genetic disorders showing familial aggregation but no typical Mendelian inheritance. Hirschsprung disease (HSCR), a developmental disorder characterized by the absence of enteric neurons in distal segments of the gut, shows a complex pattern of inheritance, with the RET p