A Homozygous RET K666N Genotype With an MEN2A Phenotype-Reference-Cited by-同舟云学术

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A Homozygous RET K666N Genotype With an MEN2A Phenotype

Published:2018-02-02 Issue:4 Volume:103 Page:1269-1272
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Jaber Tania¹,Hyde Samuel M²,Cote Gilbert J¹,Grubbs Elizabeth G³,Giles Wesley H⁴,Stevens Cathy A⁵,Dadu Ramona¹

Affiliation:

1. Department of Endocrine Neoplasia and Hormonal Disorders, The University of Texas, MD Anderson Cancer Center, Houston, Texas

2. Department of Clinical Cancer Genetics, The University of Texas, MD Anderson Cancer Center, Houston, Texas

3. Department of Surgical Oncology, The University of Texas, MD Anderson Cancer Center, Houston, Texas

4. Department of Surgery, The University of Tennessee College of Medicine, Chattanooga, Tennessee

5. Department of Pediatrics, Division of Medical Genetics, The University of Tennessee College of Medicine, Chattanooga, Tennessee

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/103/4/1269/24565714/jc.2017-02402.pdf

Reference9 articles.

1. Multiple endocrine neoplasia type 2 RET protooncogene database: repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations;Margraf;Hum Mutat,2009

2. Medullary thyroid carcinoma associated with germline RETK666N mutation;Xu;Thyroid,2016

3. Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma;Wells;Thyroid,2015

4. Four novel RET germline variants in exons 8 and 11 display an oncogenic potential in vitro;Muzza;Eur J Endocrinol,2010

5. Pheochromocytoma and paraganglioma;Pacak;Endocr Pract,2015

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genotype-specific development of MEN 2 constituent components in 683 RET carriers;Endocrine-Related Cancer;2024-05-16

2. Accelerated MEN2A in homozygous RET carriers in the context of consanguinity;European Journal of Endocrinology;2024-03

3. Multiple endocrine neoplasia type 2 (MEN2) and RET specific modifications of the ACMG/AMP variant classification guidelines and impact on the MEN2 RET database;Human Mutation;2022-10-31

4. GLOBAL ENDOCRINOLOGY: Geographical variation in the profile of RET variants in patients with medullary thyroid cancer: a comprehensive review;European Journal of Endocrinology;2022-01-01

5. Multiple endocrine neoplasia type 2: A review;Seminars in Cancer Biology;2021-04

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