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...

Descrición completa

Gardado en:
Detalles Bibliográficos
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
Formato: Artigo
Idioma:Inglês
Publicado: Blackwell Publishing Ltd 2007
Assuntos:
Original Article
Acceso en liña: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
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares