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Mutations of the RET proto-oncogene in Hirschsprung's disease

✍ Scribed by Edery, Patrick; Lyonnet, Stanislas; Mulligan, Lois M.; Pelet, Anna; Dow, Eleanore; Abel, Laurent; Holder, Susan; Nihoul-Fékété, Claire; Ponder, Bruce A. J.; Munnich, Arnold

Book ID
109787531
Publisher
Nature Publishing Group
Year
1994
Tongue
English
Weight
420 KB
Volume
367
Category
Article
ISSN
0028-0836

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Germline mutations of the RET proto-oncogene have been found in familial and sporadic forms of Hirschsprung disease (HSCR), but also in the autosomal dominantly inherited multiple endocrine neoplasia type 2 (MEN2) syndromes, which comprise the medullary thyroid carcinoma (MTC) as an obligatory featu

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## Communicated by Martin Bobrow The RET proto-oncogene codes for a receptor tyrosine kinase thought to play a role in the development of neural crest and its derivatives. Mutations in the RET proto-oncogene have been found in patients with the multiple endocrine neoplasia type 2 syndromes (MEN 2)