Associated Papers
The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome.
Xu M et al.
Frontiers in Genetics, 2025
Severe Hypernatremia as Presentation of Netherton Syndrome.
Di Nora A et al.
Global Medical Genetics, 2023
Atopic Dermatitis-like Genodermatosis: Disease Diagnosis and Management.
Pan C et al.
Diagnostics (basel, Switzerland), 2022
The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.
Sun Q et al.
Jama 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
The challenging management of a series of 43 infants with Netherton syndrome: unexpected complications and novel mutations.
Bellon N et al.
The British Journal of Dermatology, 2021
A novel SPINK5 donor splice site variant in a child with Netherton syndrome.
Mintoff D et al.
Molecular Genetics & Genomic Medicine, 2021
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
Two siblings affected by Netherton/Comèl syndrome. Diagnostic pathology and description of a new SPINK5 variant.
Schepis C et al.
Dermatology Online Journal, 2019
Netherton Syndrome: A Genotype-Phenotype Review.
Sarri CA et al.
Molecular Diagnosis & Therapy, 2017
Betapapillomavirus in multiple non-melanoma skin cancers of Netherton syndrome: Case report and published work review.
Guerra L et al.
The Journal of Dermatology, 2015
Ichthyosis Linearis Circumflexa as the Only Clinical Manifestation of Netherton Syndrome.
Guerra L et al.
Acta Dermato-venereologica, 2015
Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism.
Ilias C et al.
Case Reports in Pediatrics, 2015
Prenatal diagnosis of Comel-Netherton syndrome with PGD, case report and review article.
Bingol B et al.
Journal of Assisted Reproduction and Genetics, 2011
Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome.
Descargues P et al.
The Journal of Investigative Dermatology, 2006
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.
Bitoun E et al.
The Journal of Investigative Dermatology, 2002
The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.
Sprecher E et al.
The Journal of Investigative Dermatology, 2001
Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.
Chavanas S et al.
Nature Genetics, 2000