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Article

Netherton syndrome: mutation analysis of two Taiwanese families.

Archives of dermatological research - 1 Jun 2007

Lin Shuan-Pei, Huang Shu-Yi, Tu Mei-Eng, Wu Yu-Hung, Lin Cheng-Yueh, Lin Hsiang-Yu, Lee-Chen Guey-Jen

Abstract excerpt

Netherton syndrome (NS) is a severe autosomal recessive skin disorder characterized by congenital ichthyosiform erythroderma, hair shaft abnormalities, and atopic diathesis. Recently, pathogenic mutations were identified in serine protease inhibitor Kazal-type 5 (SPINK5), the gene that encodes lympho-epithelial Kazal-type related inhibitor (LEKTI), a type of serine protease inhibitor involved in the regulation of...

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Identifiers

PMID: 17415575
DOI: 10.1007/s00403-007-0751-z

Genes

SPINK5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Netherton syndrome: mutation analysis of two Taiwanese families.PMID 17415575Read ↗

A compound heterozygous mutation of the SPINK5 gene in a Taiwanese boy with Netherton syndrome.Semantic proximity Read ↗

Clinical and genetic characterization of Netherton syndrome due to SPINK5 founder variant in Latvian population.Semantic proximity Read ↗

Netherton syndrome: report of two Taiwanese siblings with staphylococcal scalded skin syndrome and mutation of SPINK5.Semantic proximity Read ↗

Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.Semantic proximity Read ↗

Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations.Semantic proximity Read ↗

Netherton Syndrome: A Genotype-Phenotype Review.Semantic proximity Read ↗

Correlation between SPINK5 gene mutations and clinical manifestations in Netherton syndrome patients.Semantic proximity Read ↗

Netherton Syndrome in a Mother and Her Two Children.Semantic proximity Read ↗

Netherton syndrome in two Japanese siblings with a novel mutation in the SPINK5 gene: immunohistochemical studies of LEKTI and other epidermal molecules.Semantic proximity Read ↗

Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation.Semantic proximity Read ↗

SPINK5 gene mutation and decreased LEKTI activity in three Chinese patients with Netherton's syndrome.Semantic proximity Read ↗

Immunological phenotype and skin modeling of Netherton syndrome.Semantic proximity Read ↗

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