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...

Cur síos iomlán

Na minha lista:
Sonraí Bibleagrafaíochta
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
Formáid: Artigo
Teanga:Inglês
Foilsithe: Blackwell Publishing Ltd 2007
Ábhair:
Original Article
Rochtain Ar Líne: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
Clibeanna: Cuir Clib Leis
Gan Chlibeanna, Bí ar an gcéad duine leis an taifead seo a chlibeáil!

Míreanna Comhchosúla