Associated Papers
A Case of Netherton Syndrome/SPINK5-Syndromic Epidermal Differentiation Disorder Evaluated by Serial Tape-Stripping: Persistent Elevation of Serine Protease Activities Despite Clinical Improvement.
Morizane S et al.
The Journal of Dermatology, 2025
The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome.
Xu M et al.
Frontiers in Genetics, 2025
39931731 (PubMed )
Supplement: Table1.xlsx › Table_S1
Genetic testing and new variants in diagnosis of congenital ichthyoses.
Salo M et al.
Molecular Genetics & Genomic Medicine, 2024
Skin Microbiota and Clinical Associations in Netherton Syndrome.
Sillanpää V et al.
Jid Innovations : Skin Science From Molecules to Population Health, 2021
Immune cell phenotype and functional defects in Netherton syndrome.
Eränkö E et al.
Orphanet Journal of Rare Diseases, 2018
Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation.
Hannula-Jouppi K et al.
Jama Dermatology, 2016
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