Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Molecular analysis of a series of Israeli families with Comèl-Netherton syndrome.

Dermatology (Basel, Switzerland) - 1 Jan 2014

Israeli Shirli, Sarig Ofer, Garty Ben Zion, Indelman Margarita, Bergman Reuven, Sprecher Eli, Goldberg Ilan

Abstract excerpt

BACKGROUND: Comèl-Netherton syndrome is a rare congenital autosomal recessive disorder characterized by congenital ichthyosis, hair shaft abnormalities and atopic diathesis. It is caused by mutations in SPINK5, which encodes the serine protease inhibitor LEKTI. OBJECTIVES: To delineate the spectrum of mutations carried by a series of Israeli patients in an attempt to establish an effective diagnostic strategy for...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Dermatitis, Atopic
Share to Hair
Share to Ichthyosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Israel

Share to Proteinase Inhibitory Proteins, Secretory

Share to Serine Peptidase Inhibitor Kazal-Type 5

Share to Serine Proteinase Inhibitors

Source

Identifiers

PMID: 24577329
DOI: 10.1159/000357560

Genes

SPINK5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular analysis of a series of Israeli families with Comèl-Netherton syndrome.PMID 24577329Read ↗

The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.Semantic proximity Read ↗

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

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

Comèl-Netherton syndrome defined as primary immunodeficiency.Semantic proximity Read ↗

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

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.Semantic proximity Read ↗

A Frameshift Mutation in PEN-2 Causes Familial Comedones Syndrome.Semantic proximity Read ↗

Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5.Semantic proximity Read ↗

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

[A lethal variant of Netherton syndrome in a large inbred family].Semantic proximity Read ↗

Epidermolysis bullosa simplex in Israel: clinical and genetic features.Semantic proximity Read ↗

A novel SPINK5 mutation and successful subcutaneous immunoglobulin replacement therapy in a child with Netherton syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.