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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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| Publicado no: | Mol Genet Metab Rep |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2016
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| Assuntos: | |
| Acesso em linha: | 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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