Heterogeneity in the Genetic Alterations and Clinical Presentation of Acrodermatitis Enteropathica: Case Report and Literature Review

    Giampaolo Ricci, Simona Ferrari, Elisabetta Calamelli … Annalisa Patrizi
    Studysummary A novel mutation in the SLC39A4 gene was identified in an infant with mild, incomplete acrodermatitis enteropathic symptoms, suggesting genetic testing is beneficial even without the full symptom triad.
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