Associated Papers
Genetic Landscape of Non-Remitting Neutropenia in Children and Chronic Idiopathic Neutropenia in Adults.
Grossi A et al.
International Journal of Molecular Sciences, 2025
The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome.
Xu M et al.
Frontiers in Genetics, 2025
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
Netherton Syndrome in Thai Children: A Report of Two Cases With a Literature Review.
Temboonnark P et al.
Cureus, 2024
Atopic Dermatitis-like Genodermatosis: Disease Diagnosis and Management.
Pan C et al.
Diagnostics (basel, Switzerland), 2022
A novel mutation in SPINK5 gene underlies a case of atypical Netherton syndrome.
Wang Y et al.
Frontiers in Genetics, 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
Mutation profiling in eight cases of vagal paragangliomas.
Kudryavtseva AV et al.
Bmc Medical Genomics, 2020
Netherton Syndrome: A Genotype-Phenotype Review.
Sarri CA et al.
Molecular Diagnosis & Therapy, 2017
Ichthyosis Linearis Circumflexa as the Only Clinical Manifestation of Netherton Syndrome.
Guerra L et al.
Acta Dermato-venereologica, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Molecular analysis of a series of Israeli families with Comèl-Netherton syndrome.
Israeli S et al.
Dermatology (basel, Switzerland), 2014
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
Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma: molecular testing as a helpful diagnostic tool for Netherton syndrome.
Sprecher E et al.
Clinical and Experimental Dermatology, 2004
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.
Bitoun E et al.
The Journal of Investigative Dermatology, 2002
A new SPINK5 mutation in a patient with Netherton syndrome: a case report.
Alpigiani MG et al.
Pediatric Dermatology, 0