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De-novo mutations of the RET proto-oncogene in Hirschsprung's disease

โœ Scribed by Anna Pelet; Tania Attie; Olivier Goulet; Charis Eng; BruceA.J Ponder; Arnold Munnich; Stanislas Lyonnet


Book ID
118556824
Publisher
The Lancet
Year
1994
Tongue
English
Weight
315 KB
Volume
344
Category
Article
ISSN
0140-6736

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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