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The Sipple SyndromeFrom Clinical Description Genetic Analysis in the Index Family

 

作者: Joseph,   Hughes John,   Sipple Dougald,   C. MacGillivray,   Howard Ross,   Carl Malchoff,   Diana Malchoff,  

 

期刊: The Endocrinologist  （OVID Available online 1996）
卷期: Volume 6, issue 6  

页码: 427-430

 

ISSN:1051-2144

 

年代: 1996

 

出版商: OVID

 

数据来源: OVID

 

摘要:

In 1961 Dr. John H. Sipple described the concurrence of thyroid cancer, parathyroid adenoma, and pheochromocytoma in a single individual. This has become known as the Sipple syndrome or multiple endocrine neoplasia 2A. We present the C634R mutation of the RET proto-oncogene that is the likely cause of this disorder in the index subject, and we review his kindred.

 

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