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

The phenotypic and molecular genetic features of pachyonychia congenita.

The Journal of investigative dermatology - 1 May 2011

McLean W H Irwin, Hansen C David, Eliason Mark J, Smith Frances J D

Abstract excerpt

Pachyonychia congenita (PC) is an autosomal dominant genodermatosis caused by heterozygous mutations in any one of the genes encoding the differentiation-specific keratins K6a, K6b, K16, or K17. The main clinical features of the condition include painful and highly debilitating plantar keratoderma, hypertrophic nail dystrophy, oral leukokeratosis, and a variety of epidermal cysts. Although the condition has...

Read the complete abstract on PubMed

Topics

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

Share to Dermatological and Skeletal Disorders
Share to Ectodermal Dysplasia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Keratins

Share to Keratoderma, Palmoplantar

Share to Mutation

Share to Nail Diseases and Treatments

Share to Skin and Cellular Biology Research

Source

Identifiers

PMID: 21430705
DOI: 10.1038/jid.2011.59

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

The phenotypic and molecular genetic features of pachyonychia congenita.PMID 21430705Read ↗

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

Clinical and pathological features of pachyonychia congenita.Semantic proximity Read ↗

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

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

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

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

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

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

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

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

The genetic basis of pachyonychia congenita.Semantic proximity Read ↗

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