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Neonatal presentation of familial glucocorticoid deficiency with a MRAP mutation: A case report()

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder in which the adrenal cortex fails to respond appropriately to stimulation by adrenocorticotropic hormone (ACTH) to produce cortisol. The disease is characterized in laboratory testing by glucocorticoid deficiency and mar...

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Dades bibliogràfiques
Publicat a:Mol Genet Metab Rep
Autors principals: Chen, Chun, Zhou, Rui, Fang, Yanlan, Jiang, Liqiong, Liang, Li, Wang, Chunlin
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2016
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5021926/
https://ncbi.nlm.nih.gov/pubmed/27660747
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2016.09.003
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