Atypical MEN type 2B associated with two germline RET mutations on the same allele not involving codon 918

被引：69

作者：

Menko, FH

van der Luijt, RB

de Valk, IAJ

Toorians, AWFT

Sepers, JM

van Diest, PJ

Lips, CJM

机构：

[1] Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet & Human Genet, NL-1007 MB Amsterdam, Netherlands

[2] Vrije Univ Amsterdam, Med Ctr, Dept Pathol, NL-1007 MB Amsterdam, Netherlands

[3] Vrije Univ Amsterdam, Med Ctr, Dept Internal Med, NL-1007 MB Amsterdam, Netherlands

[4] Med Ctr Alkmaar, Dept Internal Med, Alkmaar, Netherlands

[5] Univ Utrecht, Ctr Med, Dept Internal Med, NL-3508 GA Utrecht, Netherlands

[6] Univ Utrecht, Ctr Med, Dept Med Genet, NL-3508 GA Utrecht, Netherlands

来源：

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM | 2002年 / 87卷 / 01期

关键词：

D O I：

10.1210/jc.87.1.393

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A kindred was diagnosed with a typical MEN type 2B characterized by medullary thyroid cancer and mucosal neurilemmomas in multiple family members. Mutation analysis revealed a double RET germline mutation, Val804Met and Ser904Cys, in affected individuals. The clinical phenotype, the functional effect of the mutations, and the clinical implications of our findings are discussed.

引用

页码：393 / 397

页数：5

共 17 条

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