Associated Papers
Treatment of Netherton Syndrome in Pediatrics with Upadacitinib.
Sun C et al.
Alternative Therapies in Health and Medicine, 2025
The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome.
Xu M et al.
Frontiers in Genetics, 2025
Clinical characteristics of Netherton syndrome and exploration of targeted biologic therapy: two case reports.
Xiang W et al.
Frontiers in Allergy, 2025
Treatment of Netherton syndrome with upadacitinib.
Li X et al.
Clinical and Experimental Dermatology, 2023
A novel pathogenic variant in the corneodesmosin gene causing generalized inflammatory peeling skin syndrome with marked eosinophilia and trichorrhexis invaginata.
Gordon H et al.
Pediatric Dermatology, 2022
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
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.
Hong S et al.
Molecular Genetics & Genomic Medicine, 2019
The landscape of somatic mutation in sporadic Chinese colorectal cancer.
Liu Z et al.
Oncotarget, 2018
Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.
Broutier L et al.
Nature Medicine, 2017
Netherton Syndrome: A Genotype-Phenotype Review.
Sarri CA et al.
Molecular Diagnosis & Therapy, 2017
Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas.
Castro-Vega LJ et al.
Nature Communications, 2015
Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism.
Ilias C et al.
Case Reports in Pediatrics, 2015
Comèl-Netherton syndrome defined as primary immunodeficiency.
Renner ED et al.
The Journal of Allergy and Clinical Immunology, 2009
A compound heterozygous mutation of the SPINK5 gene in a Taiwanese boy with Netherton syndrome.
Chao SC et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2003
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.
Bitoun E et al.
The Journal of Investigative Dermatology, 2002