Hirschsprung disease, or congenital aganglionic megacolon, is a genetic disorder of neural crest development affecting 1:5,000 newborns. Mutations in the RET proto-oncogene, repeatedly identified in the heterozygous state in both long-and short-segment Hirschsprung patients, lead to loss of both tra
✦ LIBER ✦
Low frequency of RET mutations in Hirschsprung disease in Sweden
✍ Scribed by Pär-Johan Svensson; Marie-Louise Molander; Charis Eng; Maria Anvret; Agneta Nordenskjöld
- Book ID
- 110887797
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 720 KB
- Volume
- 54
- Category
- Article
- ISSN
- 0009-9163
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## Abstract ## BACKGROUND Hirschsprung disease (HSCR) is a congenital disease characterized by the absence of ganglion cells in various length of distal digestive tract. The rearranged during transfection gene (__RET__) is considered the major gene in HSCR. Although an increasing number of HSCR‐as
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