Glucocorticoid resistance syndrome caused by a novel <i>NR3C1</i> point mutation-Reference-Cited by-同舟云学术

Glucocorticoid resistance syndrome caused by a novel NR3C1 point mutation

Published:2018 Issue:11 Volume:65 Page:1139-1146
ISSN:0918-8959
Container-title:Endocrine Journal
language:en
Short-container-title:Endocr J

Author:

Al Argan Reem¹,Saskin Avi²,Yang Ji Wei¹,D’Agostino Maria Daniela²,Rivera Juan¹

Affiliation:

1. Division of Endocrinology and Metabolism, Department of Medicine, McGill University Health Center, McGill University, Montreal, Quebec, Canada

2. Department of Human Genetics, McGill University Health Center, McGill University, Montreal, Quebec, Canada

Publisher

Japan Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.jstage.jst.go.jp/article/endocrj/65/11/65_EJ18-0135/_pdf

Reference33 articles.

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2. 2 Pujols L, Mullol J, Roca-Ferrer J, Torrego A, Xaubet A, et al. (2002) Expression of glucocorticoid receptor α- and β-isoforms in human cells and tissues. Am J Physiol Cell Physiol 283: C1324–C1331.

3. 3 Chrousos GP, Olefsky JM, Samols E (2002) Hormone resistance and hypersensitivity states. Modern Endocrinology Series. Lippincott, Williams & Wilkins: Philadelphia, 542.

4. 4 Strom SP, Lee H, Das K, Vilain E, Nelson SF, et al. (2014) Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory. Genet Med 16: 510–515.

5. 5 Chrousos GP, Vingerhoeds A, Brandon D, Eil C, Pugeat M, et al. (1982) Primary cortisol resistance in man a glucocorticoid receptor-mediated disease. J Clin Invest 69: 1261–1269.

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