Multiple endocrine neoplasia type 2B and Hirschsprung's disease are genetic disorders characterized by gross and/or microscopic pathology of the enteric nervous system and associated dysmotility. A specific missense mutation in the RET proto-oncogene is the etiology of multiple endocrine neoplasia type B, in contrast to very complex multigenetic defects that underlie Hirschsprung's disease, which include overt mutations and more subtle changes in the RET locus. In this review, the molecular genetics of the 2 conditions are discussed, and the clinical implications of existing data and future studies are summarized. © 2005 by the American Gastroenterological Association.
Kapur, R. P. (2005). Multiple endocrine neoplasia type 2B and Hirschsprung’s disease. Clinical Gastroenterology and Hepatology, 3(5), 423–431. https://doi.org/10.1016/S1542-3565(04)00676-7