Article
A new double substitution mutation in the MEN1 gene: a limited penetrance and a specific phenotype.
European journal of human genetics : EJHG - 1 Jun 2013
Ullmann Urielle, Unuane David, Velkeniers Brigitte, Lissens Willy, Wuyts Wim, Bonduelle Maryse
Abstract excerpt
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal-dominant cancer syndrome that is caused by a germline mutation in the MEN1 gene encoding a tumour-suppressor protein, menin. MEN1 causes a combination of endocrine tumours such as parathyroid adenomas, pituitary adenomas, glucagonomas, gastrinomas, insulinomas, adrenocortical adenomas and non-endocrine tumours. We here present a large MEN1 family where...
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