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

Identification of clinically useful predictive genetic variants in pachyonychia congenita.

Clinical and experimental dermatology - 1 Jul 2021

Samuelov L, Sarig O, Adir N, Pavlovsky M, Smith F J, Schwartz J, Hansen C D, Sprecher E

Abstract excerpt

BACKGROUND: Pachyonychia congenita (PC) refers to a group of autosomal dominant disorders caused by mutations in five keratin genes (KRT16,KRT6A,KRT17,KRT6B or KRT6C). Current disease classification is based on the gene harbouring disease-causing variants. AIMS: We harnessed the International Pachyonychia Congenita Research Registry (IPCRR) containing both clinical and molecular data on patients with PC...

Read the complete abstract on PubMed

Topics

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

Share to Keratin-6
Share to Keratins
Share to Keratoderma, Palmoplantar

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Keratosis

Share to Leukoplakia, Oral

Share to Nail Diseases

Share to Nails, Malformed

Share to Registries

Source

Identifiers

PMID: 33486795
DOI: 10.1111/ced.14569

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of clinically useful predictive genetic variants in pachyonychia congenita.PMID 33486795Read ↗

Revisiting pachyonychia congenita: a case-cohort study of 815 patients.Semantic proximity Read ↗

The molecular genetic analysis of the expanding pachyonychia congenita case collection.Semantic proximity Read ↗

Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16.Semantic proximity Read ↗

The phenotypic and molecular genetic features of pachyonychia congenita.Semantic proximity Read ↗

A large mutational study in pachyonychia congenita.Semantic proximity Read ↗

A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita.Semantic proximity Read ↗

Insights into genotype-phenotype correlation in pachyonychia congenita from the human intermediate filament mutation database.Semantic proximity Read ↗

Pachyonychia Congenita: A Spectrum of KRT6a Mutations in Australian Patients.Semantic proximity Read ↗

A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.Semantic proximity Read ↗

Genotype‒Structurotype‒Phenotype Correlations in Patients with Pachyonychia Congenita.Semantic proximity Read ↗

Pachyonychia congenita in pediatric patients: natural history, features, and impact.Semantic proximity Read ↗

Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations.Semantic proximity Read ↗

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