## 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 HSCRβas
β¦ LIBER β¦
Loss of function effect of RET mutations causing Hirschsprung disease
β Scribed by Pasini, Barbara; Borrello, Maria Grazia; Greco, Angela; Bongarzone, Italia; Luo, Yin; Mondellini, Piera; Alberti, Luisella; Miranda, Claudia; Arighi, Elena; Bocciardi, Renata
- Book ID
- 109915982
- Publisher
- Nature Publishing Group
- Year
- 1995
- Tongue
- English
- Weight
- 790 KB
- Volume
- 10
- Category
- Article
- ISSN
- 1061-4036
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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