Multiple endocrine neoplasia type 1 caused by a new genetic mutation

被引：0

作者：

Soran, H

Vora, J

Younis, N

Joseph, F

English, P

Neoptolemus, JP

Campbell, F

Jones, IR

机构：

[1] Wirral Hosp, NHS Trust, Dept Endocrinol & Diabet, Wirral, Merseyside, England

[2] Royal Liverpool Univ Hosp, Dept Endocrinol & Diabet, Liverpool, Merseyside, England

[3] Royal Liverpool Univ Hosp, Dept Surg, Liverpool, Merseyside, England

[4] Royal Liverpool Univ Hosp, Dept Pathol, Liverpool, Merseyside, England

[5] Univ Hosp Aintree, Liverpool, Merseyside, England

来源：

ENDOCRINOLOGIST | 2004年 / 14卷 / 03期

关键词：

hypoglycemia; multiple endocrine neoplasia; type; 1; gene; novel genetic mutation;

D O I：

10.1097/01.ten.0000127933.39334.39

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The multiple endocrine neoplasia (MEN) syndromes were described early in this century(1) and subsequently were classified to 2 broad categories, MEN type 1 and MEN type 2.(2-4) The MEN syndromes are inherited as an autosomal-dominant trait. The MEN1 gene has been mapped to the centromeric area of chromosome 11. In MEN 1 families, a deletional mechanism of the regulatory gene appears to be the base of the syndrome. We describe 2 cases (mother and daughter) with MEN type 1 caused by a new genetic mutation, which has not been described before.

引用

页码：129 / 130

页数：2

共 5 条

[1] CLONAL ORIGIN OF INHERITED MEDULLARY-THYROID CARCINOMA AND PHEOCHROMOCYTOMA [J].