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

Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families.

The British journal of dermatology - 1 Mar 2009

Tanaka A, Lai-Cheong J E, Café M E M, Gontijo B, Salomão P R, Pereira L, McGrath J A

Abstract excerpt

Inherited mutations in components of desmosomes result in a spectrum of syndromes characterized by variable abnormalities in the skin and its appendages, including blisters and erosions, palmoplantar hyperkeratosis, woolly hair or hypotrichosis and, in some cases, extracutaneous features such as...

Read the complete abstract on PubMed

Topics

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

Share to Cardiomyopathies
Share to Child, Preschool
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Desmoplakins

Share to Ectodermal Dysplasia

Share to Frameshift Mutation

Share to Microscopy, Fluorescence

Share to Plakophilins

Source

Identifiers

PMID: 19016709
DOI: 10.1111/j.1365-2133.2008.08900.x

Genes

DSP
PKP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19016709-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families.PMID 19016709Read ↗

A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused by DSP mutations.Semantic proximity Read ↗

Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes.Semantic proximity Read ↗

Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.Semantic proximity Read ↗

Early-onset heart failure, alopecia, and cutaneous abnormalities associated with a novel compound heterozygous mutation in desmoplakin.Semantic proximity Read ↗

Mutations in genes encoding desmosomal proteins: spectrum of cutaneous and extracutaneous abnormalities.Semantic proximity Read ↗

A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign.Semantic proximity Read ↗

Desmosomal genodermatoses.Semantic proximity Read ↗

Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart.Semantic proximity Read ↗

Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases.Semantic proximity Read ↗

Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.Semantic proximity Read ↗

Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1Semantic proximity Read ↗

Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma.Semantic proximity Read ↗

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