The Urine as a Diagnostic Key for a Homozygous EGFR Mutation

    March 2022 in “ Portuguese Journal of Nephrology & Hypertension ”
    Mafalda Casinhas Santos, Margarida Almendra, Sofia Bota … Telma Francisco
    Studysummary 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.
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