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Article

Co‐segregation of MEN2 and Hirschsprung's disease: The same mutation of <i>RET</i> with both gain and loss‐of‐function?

1 Jan 1999

Abstract excerpt

Multiple endocrine neoplasia type 2 (MEN2) and Hirschsprung's disease (HSCR) are two dominantly inherited neurocristopathies ascribed to mutations in the RET gene [Chakravarti, 1996; Pasini et al., 1996; Eng and Mulligan, 1997]. MEN2 is a cancer syndrome comprising three related clinical subtypes: (1) MEN type 2A (MEN2A; MIM# 171400) characterized by the association of medullary thyroid carcinoma (MTC),...

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Identifiers

PMID: 10220148
DOI: 10.1002/(sici)1098-1004(1999)13:4<331::aid-humu11>3.0.co;2-#

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