30 citations
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June 2016 in “Journal of Human Genetics” This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.
September 2020 in “Acta Scientific Cancer Biology” This case report describes how personalized treatment based on Encyclopedic Tumor Analysis successfully led to durable regression in a woman with advanced pilomatrical carcinoma, unresponsive to standard care.
60 citations
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August 2008 in “Human molecular genetics online/Human molecular genetics” This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.
14 citations
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July 2004 in “Australasian Journal of Dermatology” This case study describes a patient with rapidly progressing follicular mycosis fungoides, highlighting its unusual histology and challenges in diagnosing it against cutaneous B-cell lymphoma.
September 2011 in “Chinese Journal of Dermatology” This case report describes a 69-year-old man diagnosed with folliculotropic mycosis fungoides after initially being treated for folliculitis, highlighting emerging skin lesions despite subsequent photochemotherapy and acitretin treatment.