Article
A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma.
American journal of human genetics - 1 Jan 2003
Borrego Salud, Wright Fred A, Fernández Raquel M, Williams Nita, López-Alonso Manuel, Davuluri Ramana, Antiñolo Guillermo, Eng Charis
Abstract excerpt
Hirschsprung disease (HSCR) is a common congenital disorder characterized by aganglionosis of the gut. The seemingly unrelated multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant disorder characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism. Yet, germline mutations in the RET proto-oncogene are associated with both MEN 2 and HSCR. In the former,...
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