Glucocorticoid resistance syndrome caused by two novel mutations in the NR3C1 gene
Endocrinol Nutr. 2016 Aug-Sep;63(7):369-71.
doi: 10.1016/j.endonu.2016.03.010.
Epub 2016 May 17.
[Article in
English,
Spanish]
Affiliations
- 1 Endocrinology and Diabetes Research Group, Hospital Universitario Cruces, BioCruces, CIBERER, CIBERDEM, UPV-EHU, Barakaldo, Basque Country, Spain.
- 2 Endocrinology and Diabetes Research Group, Hospital Universitario Cruces, BioCruces, CIBERER, CIBERDEM, UPV-EHU, Barakaldo, Basque Country, Spain. Electronic address: mariasonia.gaztambidesaenz@osakidetza.eus.
No abstract available
MeSH terms
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Adult
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Anxiety / genetics
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Binding Sites / genetics
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Child
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Codon, Nonsense / genetics
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Cushing Syndrome / genetics*
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Exons / genetics
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Fatigue / genetics
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Female
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Frameshift Mutation*
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Heterozygote
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Hirsutism / genetics*
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Humans
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Point Mutation*
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Protein Domains
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Receptors, Glucocorticoid / chemistry
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Receptors, Glucocorticoid / genetics*
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Zinc Fingers / genetics
Substances
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Codon, Nonsense
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NR3C1 protein, human
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Receptors, Glucocorticoid