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A patient with an apparently sporadic pheochromocytoma with a rearranged during transfection codon 635 variant: a mild form of multiple endocrine neoplasia type 2?

Abstract:

OBJECTIVE: Multiple endocrine neoplasia 2 (MEN2) is an autosomal dominant disorder characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism, with mutations at codon 634 in exon 11 of the RET (REarranged during Transfection) proto-oncogene identified as the most common genetic defect. METHODS: We present a patient diagnosed with a left adrenal pheochromocytoma at a young age in whom we identified a mutation at codon 635 of the RET gene. No MTC has been clin...

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Publication status:
Published

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Publisher copy:
10.4158/ep13424.cr

Authors


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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
OCDEM
Role:
Author
Publisher:
Endocrine Practice
Journal:
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists More from this journal
Volume:
20
Issue:
4
Pages:
e65-e68
Publication date:
2014-04-01
DOI:
EISSN:
1934-2403
ISSN:
1530-891X
Language:
English
Pubs id:
pubs:446840
UUID:
uuid:f9e01f53-03ab-4d79-b8bf-21fe968a5f89
Local pid:
pubs:446840
Source identifiers:
446840
Deposit date:
2014-05-19

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