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Loss of function effect of RET mutations causing Hirschsprung disease

✍ 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