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- Title
Mutation screening of RET proto-oncogene in a family with medullary thyroid carcinoma, marfanoid habitus and pheochromocytoma; from clinically MEN2B to genetically MEN2A syndrome.
- Authors
Hasani-Ranjbar, Shirin; Amoli, Mahsa
- Abstract
The article offers information regarding a study related to mutation screening of multiple endocrine neoplasia type 2 (MEN2) and its subtypes with reference to an index patient who had marfanoid habitus, medullary thyroid carcinoma (MTC) and bilateral pheochromocytoma. MEN2A has various symptoms including pheochromocytoma, medullary thyroid carcinoma (MTC) and hyperparathyroidism. It is concluded that marfanoid habitus is not the only finding for categorization of MEN2 subtypes.
- Subjects
GENETIC mutation; MULTIPLE endocrine neoplasia; WERMER syndrome; SIPPLE syndrome; MUCOSAL neuroma syndrome; PHEOCHROMOCYTOMA
- Publication
Endocrine (1355008X), 2012, Vol 42, Issue 1, p220
- ISSN
1355-008X
- Publication type
Letter
- DOI
10.1007/s12020-012-9610-6