Associated Papers
The Skin Tells the Story: Early Signs of Inborn Errors of Immunity.
Meric Z et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2026
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
Severe Hypernatremia as Presentation of Netherton Syndrome.
Di Nora A et al.
Global Medical Genetics, 2023
The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.
Sun Q et al.
Jama Dermatology, 2022
Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.
Strand J et al.
Frontiers in Immunology, 2020
32754152 (PubMed )
Supplement: Table_6.pdf
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