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
Novel splice site mutation at the C-terminal of SPINK5 cause a unique Netherton syndrome phenotype mimicking pustular psoriasis.
Hua S et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023
The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.
Sun Q et al.
Jama Dermatology, 2022
A novel mutation in SPINK5 gene underlies a case of atypical Netherton syndrome.
Wang Y et al.
Frontiers in Genetics, 2022
Dupilumab improves clinical symptoms in children with Netherton syndrome by suppressing Th2-mediated inflammation.
Yan S et al.
Frontiers in Immunology, 2022
Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study.
Huang Z et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2018
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