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...

全面介紹

Na minha lista:
書目詳細資料
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
格式: Artigo
語言:Inglês
出版: Blackwell Publishing Ltd 2007
主題:
Original Article
在線閱讀: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
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!

相似書籍