Severe thyrotoxicosis in an infant revealing familial nonautoimmune hyperthyroidism with a novel (C672W) stimulating thyrotropin receptor germline mutation-Reference-Cited by-同舟云学术

Severe thyrotoxicosis in an infant revealing familial nonautoimmune hyperthyroidism with a novel (C672W) stimulating thyrotropin receptor germline mutation

Published:2017-10-25 Issue:12 Volume:5 Page:1980-1987
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Oliver-Petit Isabelle¹,Savagner Frédérique²,Grunenwald Solange³,Vialon Magaly³,Edouard Thomas¹,Caron Philippe³^ORCID

Affiliation:

1. Endocrine, Genetics, Bone Diseases, and Paediatric Gynecology Unit; Children's Hospital; CHU Toulouse; Toulouse France

2. Biochemistry and Genetic laboratory; Federative institute of biology; CHU Purpan Toulouse; Toulouse France

3. Department of Endocrinology and Metabolic Diseases; Cardio-Vascular and Metabolic Unit; CHU Larrey; Toulouse France

Publisher

Wiley

Subject

General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ccr3.1178/fullpdf

Reference24 articles.

1. Familial hyperthyroidism without evidence of autoimmunty;Thomas;Acta Endocrinol.,1982

2. Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism;Duprez;Nat. Genet.,1994

3. A germline mutation of the thyrotropin receptor gene associated with thyrotoxicosis and mitral valve prolapse in a Chinese family;Khoo;J. Clin. Endocrinol. Metab.,1999

4. Novel germline mutation (Met463-Val) masquerading as Graves' disease in a large Welsh kindred with hyperthyroidism;Fuhrer;Thyroid,2000

5. A novel germline mutation in the TSH receptor gene causes non-autoimmune autosomal dominant hyperthyroidism;Alberti;Eur. J. Endocrinol.,2001

Cited by 2 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. A Case of Familial Nonautoimmune Hyperthyroidism During Pregnancy;AACE Clinical Case Reports;2020-03

2. Case Reports of Familial Non-autoimmune Hyperthyroidism in Two Malaysian Families due to Germline-activating Mutations in the Thyrotropin Receptor Gene;US Endocrinology;2020