1 citations
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August 2019 in “Journal of pediatric & adolescent gynecology” This report describes a novel AR gene mutation in a female patient, contributing to androgen insensitivity syndrome, and emphasizes its potential impact on genetic counseling.
26 citations
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September 2010 in “Experimental Dermatology” In this study, researchers identified two independent genetic variants near the androgen receptor gene strongly associated with androgenetic alopecia in men.
20 citations
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December 2000 in “Fertility and Sterility” This study found that the N363S variant of the glucocorticoid receptor was rare among women with PCOS and did not significantly contribute to genetic risk for PCOS or adrenal androgen excess.
26 citations
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September 2020 in “Journal of the European Academy of Dermatology and Venereology” This publication is a letter discussing the association between an androgen receptor genetic variant and COVID-19 disease severity in hospitalized male patients, but it reports no new research results.
December 2023 in “JCEM case reports” In this study, researchers identified a novel genetic variant in the NR3C1 gene in a mother and her son that predicts a truncated protein, leading to glucocorticoid resistance syndrome with mild hyperandrogenic features, although no clear genotype-phenotype correlation has been established.