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
Whole-exome sequencing to identify undiagnosed primary immunodeficiency disorders in children with community-acquired sepsis, admitted in the pediatric intensive care unit.
Rayzan E et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2023
A novel SPINK5 donor splice site variant in a child with Netherton syndrome.
Mintoff D et al.
Molecular Genetics & Genomic Medicine, 2021
Netherton Syndrome: A Genotype-Phenotype Review.
Sarri CA et al.
Molecular Diagnosis & Therapy, 2017
LEKTI demonstrable by immunohistochemistry of the skin: a potential diagnostic skin test for Netherton syndrome.
Ong C et al.
The British Journal of Dermatology, 2004
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.
Bitoun E et al.
The Journal of Investigative Dermatology, 2002
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