An Atypical Case of Familial Glucocorticoid Deficiency without Pigmentation Caused by Coexistent Homozygous Mutations inMC2R(T152K) andMC1R(R160W)-Reference-Cited by-同舟云学术

An Atypical Case of Familial Glucocorticoid Deficiency without Pigmentation Caused by Coexistent Homozygous Mutations inMC2R(T152K) andMC1R(R160W)

Published:2012-05-01 Issue:5 Volume:97 Page:E771-E774
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Turan Serap¹,Hughes Claire²,Atay Zeynep¹,Guran Tulay¹,Haliloglu Belma¹,Clark Adrian J. L.²,Bereket Abdullah¹,Metherell Louise A.²

Affiliation:

1. Marmara University (S.T., Z.A., T.G., B.H., A.B.), Department of Pediatric Endocrinology, 34899 Istanbul, Turkey

2. Queen Mary University of London (C.H., A.J.L.C., L.A.M.), Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London EC1M 6BQ, United Kingdom

Publisher

The Endocrine Society

Subject

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

Link

http://academic.oup.com/jcem/article-pdf/97/5/E771/20288285/jcemE771.pdf

Reference25 articles.

1. Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.;Chung;Clin Endocrinol (Oxf),2010

2. Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor.;Clark;Lancet,1993

3. Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2.;Metherell;Nat Genet,2005

4. Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency.;Metherell;J Clin Endocrinol Metab,2009

5. Neuropeptide processing and its impact on melanocortin pathways.;Pritchard;Endocrinology,2007

Cited by 25 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. Familial Glucocorticoid Deficiency: the changing landscape of an eponymous syndrome;Frontiers in Endocrinology;2023-12-21

2. Adrenal Dysfunction in Mitochondrial Diseases;International Journal of Molecular Sciences;2023-01-06

3. Addison’s disease without hyperpigmentation in pediatrics: pointing towards specific causes;Hormones;2022-11-08

4. Adrenocorticotrophin;The Pituitary;2022

5. An Insight into GPCR and G-Proteins as Cancer Drivers;Cells;2021-11-24