Article
[Hirschsprung's disease and medullary carcinoma of the thyroids: two diseases in a monogenetic disorder].
Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica - 1 Apr 2012
Olivares Muñoz M, Julià Masip M V, Oriola J, Martorell Sampol L, Parareda Sallés A, Ribó Cruz J M
Abstract excerpt
INTRODUCTION: The most common gene involved in Hirschsprung's disease (HD) is protooncogene RET. More than 100 mutations of this gene have been described associated with HD. The mutations that change a cysteine with another aminoacid (mainly in exons 10 and 11) give a risk of familial medullary thyroid carcinoma (FTMC) and MEN 2A. These mutations are found in 5% of patients with HD and have an autosomal dominant...
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