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

Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1.

Journal of dermatological science - 1 Nov 2016

Hsu Chao-Kai, Liu Lu, Can Pelin K, Kocatürk Emek, McMillan James R, Güngör Şule, Hürdoğan Özge, Sargan Aytul, Degirmentepe Ece N, Lee John Y W, Simpson Michael A, McGrath John A

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Alternative Splicing
Share to Ectodermal Dysplasia
Share to Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Introns

Share to Plakophilins

Share to RNA Splice Sites

Share to Skin Diseases

Share to Turkey

Source

Identifiers

PMID: 27554337
DOI: 10.1016/j.jdermsci.2016.08.011

Genes

PKP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1.PMID 27554337Read ↗

Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome.Semantic proximity Read ↗

Ectodermal dysplasia-skin fragility syndrome: two new cases with a novel missense mutation.Semantic proximity Read ↗

Ectodermal dysplasia-skin fragility syndrome with a new mutation.Semantic proximity Read ↗

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

Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families.Semantic proximity Read ↗

Striate palmoplantar keratoderma: Report of a novel DSG1 mutation and atypical clinical manifestations.Semantic proximity Read ↗

Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1.Semantic proximity Read ↗

Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome.Semantic proximity Read ↗

A family with unusual Kell genotypes.Semantic proximity Read ↗

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

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

PW03-009 – Genetics of PFAPA syndromeSemantic proximity Read ↗

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