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      Mutational Landscape of Extramammary Paget Disease

      research 131 Mutational landscape of extramammary Paget disease

      April 2018 in “Journal of Investigative Dermatology”
      This study found that ERBB2 mutations and amplifications are likely key drivers of extramammary Paget disease, suggesting potential for targeted therapies and cancer immunotherapy due to the moderately high mutational load observed.

      research Beyond Wavy Hairs

      160 citations , June 2008 in “American Journal Of Pathology”
      This review discusses the effects of the epidermal growth factor receptor system on skin biology and pathology, relying on animal models to analyze roles in cellular processes, wound healing, and tumorigenesis, but reports no new results.
      The Urine as a Diagnostic Key for a Homozygous EGFR Mutation

      research The urine as a diagnostic key for a homozygous EGFR mutation

      2 citations , March 2022 in “Portuguese Journal of Nephrology & Hypertension”
      This manuscript describes two case reports of preterm newborns with a rare homozygous mutation in the epidermal growth factor receptor, leading to severe health issues and early mortality despite supportive care.