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
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
Wertheim-Tysarowska K et al.
Orphanet Journal of Rare Diseases, 2024
39501396 (PubMed )
Supplement: 13023_2024_3395_MOESM3_ESM.docx
Netherton syndrome-A therapeutic challenge in childhood.
Kostova P et al.
Clinical Case Reports, 2024
A novel mutation in SPINK5 gene underlies a case of atypical Netherton syndrome.
Wang Y et al.
Frontiers in Genetics, 2022
Biological treatments for pediatric Netherton syndrome.
Pontone M et al.
Frontiers in Pediatrics, 2022
A novel SPINK5 donor splice site variant in a child with Netherton syndrome.
Mintoff D et al.
Molecular Genetics & Genomic Medicine, 2021
A novel SPINK5 mutation and successful subcutaneous immunoglobulin replacement therapy in a child with Netherton syndrome.
Zelieskova M et al.
Pediatric Dermatology, 2020
Genetic Signature of Acute Lymphoblastic Leukemia and Netherton Syndrome Co-incidence-First Report in the Literature.
Skoczen S et al.
Frontiers in Oncology, 2019
Netherton Syndrome with a Novel Likely Pathogenic Variant c.420del (p.Ser141ProfsTer5) in SPINK5 Gene: A Case Report.
Kovacheva K et al.
Case Reports in Dermatology, 0
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