1 citations
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January 2016 in “Australasian Journal of Dermatology” This case study describes a 54-year-old man with an E600A mutation in the NOD-2 gene associated with Blau syndrome, who presented with skin involvement, differing from typical cases, and initially responded to colchicine treatment.
This study found that androstenedione was more effective than testosterone in diagnosing hyperandrogenism in women with PCOS when measured by LC-MS/MS.
28 citations
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February 2020 in “Clinical Ophthalmology” This article discusses intraoperative floppy iris syndrome during cataract surgery and highlights the importance of awareness and preoperative documentation of its risk factors, emphasizing a multidisciplinary approach to management.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
2 citations
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January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.