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The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants
Familial glucocorticoid deficiency is a rare autosomal recessive genetic disorder which belongs to a group of primary adrenal insufficiency (PAI) and is mainly caused by mutations in the MC2R and MRAP genes. A comprehensive search was conducted to find the reported variants of MC2R and MRAP genes. I...
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| Publicado en: | Int J Endocrinol |
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| Autores principales: | , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Hindawi
2020
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7481914/ https://ncbi.nlm.nih.gov/pubmed/32952553 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2020/2190508 |
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