Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency

OBJECTIVE: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease characterized by isolated glucocorticoid deficiency with preserved mineralocorticoid secretion. Mutations in the ACTH receptor (MC2R) account for approximately 25% of all FGD cases, but since these are usually...

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Main Authors: Chan, Li F, Metherell, Louise A, Krude, Heiko, Ball, Colin, O'Riordan, Stephen M P, Costigan, Colm, Lynch, Sally A, Savage, Martin O, Cavarzere, Paolo, Clark, Adrian J L
Format: Artigo
Jezik:Inglês
Izdano: Blackwell Publishing Ltd 2009
Teme:
Original Articles
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2728896/
https://ncbi.nlm.nih.gov/pubmed/19170705
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1365-2265.2008.03511.x
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