ArticleFrontiers in medicine2025
Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.
Article in Frontiers in medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Acrodermatitis enteropathy (AE) is a rare autosomal recessive disorder caused by mutations in the Case description: A 10-month-old minority female infant presented with characteristic perioral, acral, and perianal erythematous erosions; alopecia; and diarrhea. Her serum zinc level significantly decreased (0.19 mg/L). Whole-exome sequencing revealed a homozygous c.197G > T(p. C66F) mutation in the Conclusion: This is the first case of AE in a Xinjiang minority infant and implicates
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