15 citations
,
June 2012 in “British Journal of Dermatology” This study identified a novel KRT86 mutation associated with autosomal dominant monilethrix, expanding understanding of its genetic basis beyond known motifs.
20 citations
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May 2013 in “International Journal of Molecular Medicine” This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.
April 2024 in “Anais Brasileiros de Dermatologia” 
June 2026 in “Research Square” This report on a case of alopecia areata in a mother and daughter with a 16-year gap suggests genetic predisposition and environmental triggers rather than direct transmission.
November 2025 in “International Journal of Clinical Obstetrics and Gynaecology” This study found evidence for a genetic basis of polycystic ovary syndrome, indicating an autosomal dominant pattern of inheritance among first-degree relatives.