27 citations
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June 1989 in “Journal of Medical Genetics” This case report describes four patients with hypertrichosis cubiti and short stature, but could not determine a genetic link between hypertrichosis cubiti and skeletal dysplasia.
2 citations
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January 2019 in “Medizinische Genetik” Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.
June 2023 in “Journal of Liaquat University of Medical & Health Sciences” This study observed that women with PCOS from Khyber Pakhtunkhwa had significantly higher serum PSA levels, which positively correlated with hirsutism, testosterone, and DHEAS levels compared to healthy controls.
April 2025 in “Indus journal of bioscience research.” This study observed that among patients with PCOS, hirsutism was present in 75.63%, acne in 65%, and other skin conditions such as female pattern hair loss, acanthosis nigricans, and seborrhea in varying proportions, highlighting the dermatological impact of PCOS on patients' quality of life.
15 citations
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October 2019 in “BMJ Open” This protocol outlines a nationwide study to investigate the prevalence of metabolic and reproductive abnormalities, anxiety, and depression in Brazilian women with polycystic ovary syndrome, aiming to inform public health strategies.