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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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| Vydáno v: | Mol Genet Metab Rep |
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| Hlavní autoři: | , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Elsevier
2016
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| Témata: | |
| On-line přístup: | 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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