Associated Papers
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
Successful dupilumab treatment for ichthyotic and atopic features of Netherton syndrome.
Murase C et al.
Journal of Dermatological Science, 2021
A novel SPINK5 donor splice site variant in a child with Netherton syndrome.
Mintoff D et al.
Molecular Genetics & Genomic Medicine, 2021
Correlation between SPINK5 gene mutations and clinical manifestations in Netherton syndrome patients.
Komatsu N et al.
The Journal of Investigative Dermatology, 2008
Elevated stratum corneum hydrolytic activity in Netherton syndrome suggests an inhibitory regulation of desquamation by SPINK5-derived peptides.
Komatsu N et al.
The Journal of Investigative Dermatology, 2002
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