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Article

Severe lethal phenotype of a Japanese case of Netherton syndrome with homozygous founder mutations of SPINK5 c.375_376delAT.

The Journal of dermatology - 1 Dec 2015

Itoh Katsuhiko, Kako Tomoko, Suzuki Naofumi, Sakurai Naoto, Sugiyama Kenji, Yamanishi Kiyofumi

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26365906
DOI: 10.1111/1346-8138.13090

Genes

SPINK5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Severe lethal phenotype of a Japanese case of Netherton syndrome with homozygous founder mutations of SPINK5 c.375_376delAT.PMID 26365906Read ↗

A case of Netherton syndrome with mutation in SPINK5 and FLG.Semantic proximity Read ↗

A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome.Semantic proximity Read ↗

A new SPINK5 donor splice site mutation in siblings with Netherton syndrome.Semantic proximity Read ↗

SPINK5 mutation and FLG gene deletion in an infant with Netherton syndrome.Semantic proximity Read ↗

A viable mouse model for Netherton syndrome based on mosaic inactivation of the Spink5 gene.Semantic proximity Read ↗

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

Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in SPINK5 Gene.Semantic proximity Read ↗

New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome.Semantic proximity Read ↗

New mutation leading to the full variety of typical features of the Netherton syndrome.Semantic proximity Read ↗

In-frame Exon Skipping in KRT5 due to Novel Intronic Deletion Causes Epidermolysis Bullosa Simplex, Generalized Severe.Semantic proximity Read ↗

The true culprit within the SPINK1 p.N34S-containing haplotype is still at large.Semantic proximity Read ↗

A novel deletion mutation of ATP7A gene in a Chinese family with Menkes disease.Semantic proximity Read ↗

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