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
Clinical characteristics of Netherton syndrome and exploration of targeted biologic therapy: two case reports.
Xiang W et al.
Frontiers in Allergy, 2025
Clinical and immunological characterization of a Netherton syndrome infant with a large SPINK gene cluster deletion and a c.1258A>G polymorphism in SPINK5.
Guan Y et al.
Frontiers in Immunology, 2025
Netherton syndrome with chromosome 16p11.2 microduplication in a Chinese infant.
Tang J et al.
International Journal of Dermatology, 2023
Dupilumab improves clinical symptoms in children with Netherton syndrome by suppressing Th2-mediated inflammation.
Yan S et al.
Frontiers in Immunology, 2022
A novel SPINK5 donor splice site variant in a child with Netherton syndrome.
Mintoff D et al.
Molecular Genetics & Genomic Medicine, 2021
Establishment of an induced pluripotent stem cell line (SAHGMUi001-A) from a patient with Netherton syndrome carrying SPINK5 mutation.
Xu M et al.
Stem Cell Research, 2021
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
Qin Z et al.
Frontiers in Genetics, 2020
32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_1
Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.
Nair P et al.
Molecular Genetics & Genomic Medicine, 2018
Rare case of Netherton syndrome with generalized lentigines.
Xu M et al.
The Journal of Dermatology, 2017
Netherton Syndrome: A Genotype-Phenotype Review.
Sarri CA et al.
Molecular Diagnosis & Therapy, 2017
Netherton syndrome: mutation analysis of two Taiwanese families.
Lin SP et al.
Archives of Dermatological Research, 2007
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