Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.

Hirschsprung's disease (HSCR) is a common congenital malformation characterized by the absence of intramural ganglion cells of the hindgut. Recently, mutations of the RET tyrosine kinase receptor have been identified in 50 and 15-20% of familial and sporadic HSCR, respectively. These mutations...

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Bibliographic Details
Main Authors: Pelet, A, Geneste, O, Edery, P, Pasini, A, Chappuis, S, Atti, T, Munnich, A, Lenoir, G, Lyonnet, S, Billaud, M
Format: Artigo
Language:Inglês
Published: 1998
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC508697/
https://ncbi.nlm.nih.gov/pubmed/9502784
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