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C R Seances Soc Biol Fil. 1994;188(5-6):499-504.

[Identification of mutation of RET proto-oncogene in Hirschsprung disease].

[Article in French]

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Service de Génétique Médicale, INSERM U-393, Hôpital des Enfants-Malades, Paris.


Hirschsprung's disease is a frequent congenital malformation of the hindgut. The existence of Hirschsprung's families favors the role of an autosomal dominant gene with a reduced penetrance. We have successively localized and identified the RET proto-oncogene as the gene responsible for familial Hirschsprung's disease. Interestingly, other mutations of the RET proto-oncogene have been described in inherited predisposition to endocrine cancers. This observation shows that, depending on their nature, mutations of the RET proto-oncogene could lead either to early developmental defects or to tumor predisposition.

[Indexed for MEDLINE]

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