Clinical presentations and RET protooncogene mutations in seven multiple endocrine neoplasia type 2 kindreds Academic Article Article uri icon

Overview

MeSH Major

  • Ependymoma
  • Sacrococcygeal Region
  • Teratoma

abstract

  • Several lines of evidence support a gain of function mechanism for tumorigenesis in the MEN 2 syndromes but a loss of function mechanism for aganglionosis in Hirschsprung's disease. The authors propose that a multihit mechanism can reconcile the apparent paradox of a single mutation that gives rise to both gain and loss of function disorders in a single patient.

publication date

  • November 1996

Research

keywords

  • Academic Article

Identity

Digital Object Identifier (DOI)

  • 10.1002/(SICI)1097-0142(19961101)78:9<1996::AID-CNCR22>3.0.CO;2-S

PubMed ID

  • 8909322

Additional Document Info

start page

  • 1996

end page

  • 2003

volume

  • 78

number

  • 9