ArticleFrontiers in immunology2025
Clinical and immunological characterization of a Netherton syndrome infant with a large SPINK gene cluster deletion and a c.1258A>G polymorphism in
Article in Frontiers in immunology, 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
Introduction: Netherton syndrome (NS) is a rare autosomal recessive disorder caused by mutations in the Methods: Clinical information was collected and reviewed from a 1-year-6-month-old boy presenting with NS. Hair shaft abnormalities were examined by scanning electron microscopy. Pathogenic variants in Results: The patient presented with typical clinical manifestations of NS. Genetic analysis identified a novel heterozygous deletion spanning the Discussion: This study reports a novel compound heterozygous
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