Associated Papers
Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in SPINK5 Gene.
Moltrasio C et al.
Genes, 2023
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 SPINK5 mutation in a patient with Netherton syndrome: a case report.
Alpigiani MG et al.
Pediatric Dermatology, 0
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