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Repository of Research and Investigative Information

Baqiyatallah University of Medical Sciences

A case of Multiple endocrine neoplasia type 2B and gangliomatosis of gastrointestinal tract

(2012) A case of Multiple endocrine neoplasia type 2B and gangliomatosis of gastrointestinal tract. Case Rep Med. ISSN 16879627 (ISSN)

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Official URL: https://www.scopus.com/inward/record.uri?eid=2-s2....

Abstract

Multiple endocrine neoplasia type 2 (MEN2) is a rare familial syndrome caused by mutations in the RET protooncogene and it is transmitted as an autosomal dominant trait. The underlying problem for all the MEN syndromes is failure of a tumour suppressor gene. The genetic defect in MEN2 is on chromosome 10 (10q11.2) and has also been identified both for MEN2A and MEN2B. The reported patient is an 18-year-old girl presented with long-term diarrhea and enterocutaneous fistula. Her thyroid nodules, marfanoid habitus and bumpy lips, were also highly suggestive for MEN2B. Copyright © 2012 Banafshe Shahnazari et al.

Item Type: Article
Divisions:
Journal or Publication Title: Case Rep Med
Journal Index: Scopus
Volume: 2012
Identification Number: https://doi.org/10.1155/2012/491054
ISSN: 16879627 (ISSN)
Depositing User: مهندس مهدی شریفی
URI: http://eprints.bmsu.ac.ir/id/eprint/1203

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