Associated Papers
Hidden splice variants in inborn errors of immunity: Uncovering diagnoses and therapeutic targets.
Ochoa S et al.
The Journal of Allergy and Clinical Immunology, 2025
The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome.
Xu M et al.
Frontiers in Genetics, 2025
Dupilumab in a 9-week-old with Netherton Syndrome Leads to Deep Symptom Control.
Vollmuth Y et al.
Journal of Clinical Immunology, 2024
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
Wertheim-Tysarowska K et al.
Orphanet Journal of Rare Diseases, 2024
Successful infliximab treatment in siblings with Netherton syndrome: Unveiling a novel SPINK5 gene variant and literature review.
Salici NS et al.
The Australasian Journal of Dermatology, 2024
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
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
Inherited ichthyoses: molecular causes of the disease in Czech patients.
Borská R et al.
Orphanet Journal of Rare Diseases, 2019
Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases.
Bergant G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Netherton Syndrome: A Genotype-Phenotype Review.
Sarri CA et al.
Molecular Diagnosis & Therapy, 2017
Is c.1431-12G>A A common European mutation of SPINK5? report of a patient with Netherton Syndrome.
Śmigiel R et al.
Balkan Journal of Medical Genetics : Bjmg, 2016
Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism.
Ilias C et al.
Case Reports in Pediatrics, 2015
Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations.
Lacroix M et al.
The Journal of Investigative Dermatology, 2012
[A lethal variant of Netherton syndrome in a large inbred family].
Capri Y et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2011
Comèl-Netherton syndrome defined as primary immunodeficiency.
Renner ED et al.
The Journal of Allergy and Clinical Immunology, 2009