Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia-Reference-Cited by-同舟云学术

Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia

Published:2007-02 Issue:2 Volume:66 Page:205-210
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:Clin Endocrinol

Author:

Lin Lin,Hindmarsh Peter C.,Metherell Louise A.,Alzyoud Mahmoud,Al-Ali Maryam,Brain Caroline E.,Clark Adrian J. L.,Dattani Mehul T.,Achermann John C.

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2265.2006.02709.x/fullpdf

Reference29 articles.

1. Inherited ACTH insensitivity illuminates the mechanisms of ACTH action

2. Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor

3. Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene.

4. Molecular insights into inherited ACTH resistance syndromes

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