Netherton Syndrome with a Novel Likely Pathogenic Variant c.420del (p.Ser141ProfsTer5) in SPINK5 Gene: A Case Report
Introduction: Netherton syndrome (NS) is a rare autosomal recessive genodermatosis in the group of congenital ichthyosis. The clinical manifestations of the syndrome vary from a very mild clinical manifestation occurring with the picture of ichthyosis linearis circumflexa to exfoliative erythroderma...
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| Main Authors: | , , , |
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| Format: | Book |
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Karger Publishers,
2024-02-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |