Frequency of RET mutations in long- and short-segment Hirschsprung disease

Seri, Marco; Yin, Luo; Barone, Virginia; Bolino, Alessandra; Celli, Iacopo; Bocciardi, Renata; Pasini, Barbara; Ceccherini, Isabella; Lerone, Margherita; Kristoffersson, Ulf; Torsten Larsson, Lars; M Casasa, J; T. Cass, Daniel; Abramowicz, Marc; Vanderwinden, Jean-Marie; Kravčenkiene, Ingrida; Barić, Ivo; Silengo, Margherita; Martucciello, Giuseppe; Romeo, Giovanni

doi:10.1002/(sici)1098-1004(1997)9:3<243::aid-humu5>3.0.co;2-8

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Frequency of RET mutations in long- and short-segment Hirschsprung disease

Published in Human Mutation • Jan 1, 1997

Authors:

Marco Seri

Luo Yin

Virginia Barone

Abstract

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 tr...

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Hirschsprung's disease

RET proto-oncogene

Biology

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