234 citations
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November 2009 in “American journal of human genetics” This study identified genetic variants in the Trichohyalin gene that account for approximately 6% of the variance in hair morphology among Australians of European descent.
39 citations
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September 2012 in “Human Reproduction” This study found that specific SHBG gene variants, rs727428 and rs6259, were associated with PCOS in Mediterranean women, although the associations were relatively weak and do not indicate a causative role.
24 citations
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November 2015 in “Annals of Nutrition and Metabolism” This study found that specific SHBG gene variants and haplotypes are associated with polycystic ovary syndrome, suggesting that SHBG may be a candidate gene for the condition.
July 2025 in “Pigment International” This case report highlights a 40-year-old Indian male diagnosed with follicular vitiligo, presenting as graying hair and depigmented patches, and emphasizes the importance of distinguishing this rare variant from similar conditions like alopecia areata due to its unique presentation.
11 citations
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July 2014 in “Gene” This study reports a unique case of common variable immunodeficiency with autoimmunity linked to a heterozygous S250C variant in the autoimmune regulator gene, suggesting a potential molecular basis for this combination.