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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Detalles Bibliográficos
Autores principales: 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
Formato: Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2007
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1859977/
https://www.ncbi.nlm.nih.gov/pubmed/17223989
http://dx.doi.org/10.1111/j.1365-2265.2006.02709.x

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