Associated Papers
Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.
Kablan A et al.
Clinical Genetics, 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
A novel mutation in SPINK5 gene underlies a case of atypical Netherton syndrome.
Wang Y et al.
Frontiers in Genetics, 2022
A novel SPINK5 donor splice site variant in a child with Netherton syndrome.
Mintoff D et al.
Molecular Genetics & Genomic Medicine, 2021
A New Splice-site Mutation of SPINK5 Gene in the Netherton Syndrome with Different Clinical Features: A Case Report.
Erden E et al.
Balkan Journal of Medical Genetics : Bjmg, 2020
Netherton syndrome: A neonatal case with respiratory insufficiency.
Okulu E et al.
Archivos Argentinos De Pediatria, 2018
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.
Bitoun E et al.
The Journal of Investigative Dermatology, 2002
[West syndrome: pyridoxine insufficiency?].
Vidal R et al.
Anales Espanoles De Pediatria, 1993
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