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

OBJECTIVE: Familial glucocorticoid deficiency type I (FGD1) is a rare form of primary adrenal insufficiency resulting from recessive mutations in the ACTH receptor (MC2R, MC2R). Individuals with this condition typically present in infancy or childhood with signs and symptoms of cortisol insufficienc...

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Bibliografske podrobnosti
Main Authors: 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
Format: Artigo
Jezik:Inglês
Izdano: Blackwell Publishing Ltd 2007
Teme:
Original Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1859977/
https://ncbi.nlm.nih.gov/pubmed/17223989
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1365-2265.2006.02709.x
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